UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37001028_37001031delinsCAAT | CA1539601594 | NIPBL | c.3614_3617delinsCAAT (p.Ser1205=) c.1-63550_1-63547delinsCAAT (n.1-63550_1-63547delinsCAAT) c.2870_2873delinsCAAT (p.Ser957=) c.3416_3419delinsCAAT (p.Ser1139=) c.3233_3236delinsCAAT (p.Ser1078=) c.2954_2957delinsCAAT (p.Ser985=) c.1997_2000delinsCAAT (p.Ser666=) c.1988_1991delinsCAAT (p.Ser663=) | |
| 5 | g.37001030_37001032del | CA252117 | NIPBL | c.3616_3618del (p.Ile1206del) c.1-63548_1-63546del (n.1-63548_1-63546del) c.2872_2874del (p.Ile958del) c.3418_3420del (p.Ile1140del) c.3235_3237del (p.Ile1079del) c.2956_2958del (p.Ile986del) c.1999_2001del (p.Ile667del) c.1990_1992del (p.Ile664del) | ClinVar dbSNP |
| 5 | g.37001031T>A | CA359519042 | NIPBL | c.3617T>A (p.Ile1206Lys) c.1-63547T>A (n.1-63547T>A) c.2873T>A (p.Ile958Lys) c.3419T>A (p.Ile1140Lys) c.3236T>A (p.Ile1079Lys) c.2957T>A (p.Ile986Lys) c.2000T>A (p.Ile667Lys) c.1991T>A (p.Ile664Lys) | |
| 5 | g.37001031T>C | CA359519046 | NIPBL | c.3617T>C (p.Ile1206Thr) c.1-63547T>C (n.1-63547T>C) c.2873T>C (p.Ile958Thr) c.3419T>C (p.Ile1140Thr) c.3236T>C (p.Ile1079Thr) c.2957T>C (p.Ile986Thr) c.2000T>C (p.Ile667Thr) c.1991T>C (p.Ile664Thr) | |
| 5 | g.37001031T>G | CA359519051 | NIPBL | c.3617T>G (p.Ile1206Arg) c.1-63547T>G (n.1-63547T>G) c.2873T>G (p.Ile958Arg) c.3419T>G (p.Ile1140Arg) c.3236T>G (p.Ile1079Arg) c.2957T>G (p.Ile986Arg) c.2000T>G (p.Ile667Arg) c.1991T>G (p.Ile664Arg) | gnomAD v4 |
| 5 | g.37001032A>C | CA443904570 | NIPBL | c.3618A>C (p.Ile1206=) c.1-63546A>C (n.1-63546A>C) c.2874A>C (p.Ile958=) c.3420A>C (p.Ile1140=) c.3237A>C (p.Ile1079=) c.2958A>C (p.Ile986=) c.2001A>C (p.Ile667=) c.1992A>C (p.Ile664=) | |
| 5 | g.37001032A>G | CA359519054 | NIPBL | c.3618A>G (p.Ile1206Met) c.1-63546A>G (n.1-63546A>G) c.2874A>G (p.Ile958Met) c.3420A>G (p.Ile1140Met) c.3237A>G (p.Ile1079Met) c.2958A>G (p.Ile986Met) c.2001A>G (p.Ile667Met) c.1992A>G (p.Ile664Met) | gnomAD v4 |
| 5 | g.37001032A>T | CA443904571 | NIPBL | c.3618A>T (p.Ile1206=) c.1-63546A>T (n.1-63546A>T) c.2874A>T (p.Ile958=) c.3420A>T (p.Ile1140=) c.3237A>T (p.Ile1079=) c.2958A>T (p.Ile986=) c.2001A>T (p.Ile667=) c.1992A>T (p.Ile664=) | |
| 5 | g.37001033G>A | CA359519058 | NIPBL | c.3619G>A (p.Glu1207Lys) c.1-63545G>A (n.1-63545G>A) c.2875G>A (p.Glu959Lys) c.3421G>A (p.Glu1141Lys) c.3238G>A (p.Glu1080Lys) c.2959G>A (p.Glu987Lys) c.2002G>A (p.Glu668Lys) c.1993G>A (p.Glu665Lys) | COSMIC COSMIC |
| 5 | g.37001033G>C | CA359519066 | NIPBL | c.3619G>C (p.Glu1207Gln) c.1-63545G>C (n.1-63545G>C) c.2875G>C (p.Glu959Gln) c.3421G>C (p.Glu1141Gln) c.3238G>C (p.Glu1080Gln) c.2959G>C (p.Glu987Gln) c.2002G>C (p.Glu668Gln) c.1993G>C (p.Glu665Gln) | |
| 5 | g.37001033G>T | CA359519070 | NIPBL | c.3619G>T (p.Glu1207Ter) c.1-63545G>T (n.1-63545G>T) c.2875G>T (p.Glu959Ter) c.3421G>T (p.Glu1141Ter) c.3238G>T (p.Glu1080Ter) c.2959G>T (p.Glu987Ter) c.2002G>T (p.Glu668Ter) c.1993G>T (p.Glu665Ter) | |
| 5 | g.37001034A>C | CA359519079 | NIPBL | c.3620A>C (p.Glu1207Ala) c.1-63544A>C (n.1-63544A>C) c.2876A>C (p.Glu959Ala) c.3422A>C (p.Glu1141Ala) c.3239A>C (p.Glu1080Ala) c.2960A>C (p.Glu987Ala) c.2003A>C (p.Glu668Ala) c.1994A>C (p.Glu665Ala) | |
| 5 | g.37001034A>G | CA359519082 | NIPBL | c.3620A>G (p.Glu1207Gly) c.1-63544A>G (n.1-63544A>G) c.2876A>G (p.Glu959Gly) c.3422A>G (p.Glu1141Gly) c.3239A>G (p.Glu1080Gly) c.2960A>G (p.Glu987Gly) c.2003A>G (p.Glu668Gly) c.1994A>G (p.Glu665Gly) | |
| 5 | g.37001034A>T | CA359519087 | NIPBL | c.3620A>T (p.Glu1207Val) c.1-63544A>T (n.1-63544A>T) c.2876A>T (p.Glu959Val) c.3422A>T (p.Glu1141Val) c.3239A>T (p.Glu1080Val) c.2960A>T (p.Glu987Val) c.2003A>T (p.Glu668Val) c.1994A>T (p.Glu665Val) | |
| 5 | g.37001035G>A | CA443904572 | NIPBL | c.3621G>A (p.Glu1207=) c.1-63543G>A (n.1-63543G>A) c.2877G>A (p.Glu959=) c.3423G>A (p.Glu1141=) c.3240G>A (p.Glu1080=) c.2961G>A (p.Glu987=) c.2004G>A (p.Glu668=) c.1995G>A (p.Glu665=) | |
| 5 | g.37001035G>C | CA359519096 | NIPBL | c.3621G>C (p.Glu1207Asp) c.1-63543G>C (n.1-63543G>C) c.2877G>C (p.Glu959Asp) c.3423G>C (p.Glu1141Asp) c.3240G>C (p.Glu1080Asp) c.2961G>C (p.Glu987Asp) c.2004G>C (p.Glu668Asp) c.1995G>C (p.Glu665Asp) | |
| 5 | g.37001035G= | CA1539601607 | NIPBL | c.3621G= (p.Glu1207=) c.1-63543G= (n.1-63543G=) c.2877G= (p.Glu959=) c.3423G= (p.Glu1141=) c.3240G= (p.Glu1080=) c.2961G= (p.Glu987=) c.2004G= (p.Glu668=) c.1995G= (p.Glu665=) | |
| 5 | g.37001035G>T | CA359519105 | NIPBL | c.3621G>T (p.Glu1207Asp) c.1-63543G>T (n.1-63543G>T) c.2877G>T (p.Glu959Asp) c.3423G>T (p.Glu1141Asp) c.3240G>T (p.Glu1080Asp) c.2961G>T (p.Glu987Asp) c.2004G>T (p.Glu668Asp) c.1995G>T (p.Glu665Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37001036A>C | CA359519124 | NIPBL | c.3622A>C (p.Asn1208His) c.1-63542A>C (n.1-63542A>C) c.2878A>C (p.Asn960His) c.3424A>C (p.Asn1142His) c.3241A>C (p.Asn1081His) c.2962A>C (p.Asn988His) c.2005A>C (p.Asn669His) c.1996A>C (p.Asn666His) | |
| 5 | g.37001036A>G | CA359519128 | NIPBL | c.3622A>G (p.Asn1208Asp) c.1-63542A>G (n.1-63542A>G) c.2878A>G (p.Asn960Asp) c.3424A>G (p.Asn1142Asp) c.3241A>G (p.Asn1081Asp) c.2962A>G (p.Asn988Asp) c.2005A>G (p.Asn669Asp) c.1996A>G (p.Asn666Asp) | |
| 5 | g.37001036A>T | CA359519115 | NIPBL | c.3622A>T (p.Asn1208Tyr) c.1-63542A>T (n.1-63542A>T) c.2878A>T (p.Asn960Tyr) c.3424A>T (p.Asn1142Tyr) c.3241A>T (p.Asn1081Tyr) c.2962A>T (p.Asn988Tyr) c.2005A>T (p.Asn669Tyr) c.1996A>T (p.Asn666Tyr) | |
| 5 | g.37001037A>C | CA359519137 | NIPBL | c.3623A>C (p.Asn1208Thr) c.1-63541A>C (n.1-63541A>C) c.2879A>C (p.Asn960Thr) c.3425A>C (p.Asn1142Thr) c.3242A>C (p.Asn1081Thr) c.2963A>C (p.Asn988Thr) c.2006A>C (p.Asn669Thr) c.1997A>C (p.Asn666Thr) | |
| 5 | g.37001037A>G | CA359519144 | NIPBL | c.3623A>G (p.Asn1208Ser) c.1-63541A>G (n.1-63541A>G) c.2879A>G (p.Asn960Ser) c.3425A>G (p.Asn1142Ser) c.3242A>G (p.Asn1081Ser) c.2963A>G (p.Asn988Ser) c.2006A>G (p.Asn669Ser) c.1997A>G (p.Asn666Ser) | |
| 5 | g.37001037A>T | CA359519140 | NIPBL | c.3623A>T (p.Asn1208Ile) c.1-63541A>T (n.1-63541A>T) c.2879A>T (p.Asn960Ile) c.3425A>T (p.Asn1142Ile) c.3242A>T (p.Asn1081Ile) c.2963A>T (p.Asn988Ile) c.2006A>T (p.Asn669Ile) c.1997A>T (p.Asn666Ile) | |
| 5 | g.37001038T>A | CA359519150 | NIPBL | c.3624T>A (p.Asn1208Lys) c.1-63540T>A (n.1-63540T>A) c.2880T>A (p.Asn960Lys) c.3426T>A (p.Asn1142Lys) c.3243T>A (p.Asn1081Lys) c.2964T>A (p.Asn988Lys) c.2007T>A (p.Asn669Lys) c.1998T>A (p.Asn666Lys) | |
| 5 | g.37001038T>C | CA443904573 | NIPBL | c.3624T>C (p.Asn1208=) c.1-63540T>C (n.1-63540T>C) c.2880T>C (p.Asn960=) c.3426T>C (p.Asn1142=) c.3243T>C (p.Asn1081=) c.2964T>C (p.Asn988=) c.2007T>C (p.Asn669=) c.1998T>C (p.Asn666=) | |
| 5 | g.37001038T>G | CA359519152 | NIPBL | c.3624T>G (p.Asn1208Lys) c.1-63540T>G (n.1-63540T>G) c.2880T>G (p.Asn960Lys) c.3426T>G (p.Asn1142Lys) c.3243T>G (p.Asn1081Lys) c.2964T>G (p.Asn988Lys) c.2007T>G (p.Asn669Lys) c.1998T>G (p.Asn666Lys) | |
| 5 | g.37001039A>C | CA359519164 | NIPBL | c.3625A>C (p.Ile1209Leu) c.1-63539A>C (n.1-63539A>C) c.2881A>C (p.Ile961Leu) c.3427A>C (p.Ile1143Leu) c.3244A>C (p.Ile1082Leu) c.2965A>C (p.Ile989Leu) c.2008A>C (p.Ile670Leu) c.1999A>C (p.Ile667Leu) | |
| 5 | g.37001039A>G | CA359519169 | NIPBL | c.3625A>G (p.Ile1209Val) c.1-63539A>G (n.1-63539A>G) c.2881A>G (p.Ile961Val) c.3427A>G (p.Ile1143Val) c.3244A>G (p.Ile1082Val) c.2965A>G (p.Ile989Val) c.2008A>G (p.Ile670Val) c.1999A>G (p.Ile667Val) | COSMIC COSMIC |
| 5 | g.37001039A>T | CA359519174 | NIPBL | c.3625A>T (p.Ile1209Phe) c.1-63539A>T (n.1-63539A>T) c.2881A>T (p.Ile961Phe) c.3427A>T (p.Ile1143Phe) c.3244A>T (p.Ile1082Phe) c.2965A>T (p.Ile989Phe) c.2008A>T (p.Ile670Phe) c.1999A>T (p.Ile667Phe) | |
| 5 | g.37001040T>A | CA359519175 | NIPBL | c.3626T>A (p.Ile1209Asn) c.1-63538T>A (n.1-63538T>A) c.2882T>A (p.Ile961Asn) c.3428T>A (p.Ile1143Asn) c.3245T>A (p.Ile1082Asn) c.2966T>A (p.Ile989Asn) c.2009T>A (p.Ile670Asn) c.2000T>A (p.Ile667Asn) | |
| 5 | g.37001040T>C | CA359519177 | NIPBL | c.3626T>C (p.Ile1209Thr) c.1-63538T>C (n.1-63538T>C) c.2882T>C (p.Ile961Thr) c.3428T>C (p.Ile1143Thr) c.3245T>C (p.Ile1082Thr) c.2966T>C (p.Ile989Thr) c.2009T>C (p.Ile670Thr) c.2000T>C (p.Ile667Thr) | |
| 5 | g.37001040T>G | CA359519181 | NIPBL | c.3626T>G (p.Ile1209Ser) c.1-63538T>G (n.1-63538T>G) c.2882T>G (p.Ile961Ser) c.3428T>G (p.Ile1143Ser) c.3245T>G (p.Ile1082Ser) c.2966T>G (p.Ile989Ser) c.2009T>G (p.Ile670Ser) c.2000T>G (p.Ile667Ser) | |
| 5 | g.37001041T>A | CA443904574 | NIPBL | c.3627T>A (p.Ile1209=) c.1-63537T>A (n.1-63537T>A) c.2883T>A (p.Ile961=) c.3429T>A (p.Ile1143=) c.3246T>A (p.Ile1082=) c.2967T>A (p.Ile989=) c.2010T>A (p.Ile670=) c.2001T>A (p.Ile667=) | |
| 5 | g.37001041T>C | CA443904575 | NIPBL | c.3627T>C (p.Ile1209=) c.1-63537T>C (n.1-63537T>C) c.2883T>C (p.Ile961=) c.3429T>C (p.Ile1143=) c.3246T>C (p.Ile1082=) c.2967T>C (p.Ile989=) c.2010T>C (p.Ile670=) c.2001T>C (p.Ile667=) | |
| 5 | g.37001041T>G | CA359519192 | NIPBL | c.3627T>G (p.Ile1209Met) c.1-63537T>G (n.1-63537T>G) c.2883T>G (p.Ile961Met) c.3429T>G (p.Ile1143Met) c.3246T>G (p.Ile1082Met) c.2967T>G (p.Ile989Met) c.2010T>G (p.Ile670Met) c.2001T>G (p.Ile667Met) | |
| 5 | g.37001042T>A | CA359519198 | NIPBL | c.3628T>A (p.Leu1210Met) c.1-63536T>A (n.1-63536T>A) c.2884T>A (p.Leu962Met) c.3430T>A (p.Leu1144Met) c.3247T>A (p.Leu1083Met) c.2968T>A (p.Leu990Met) c.2011T>A (p.Leu671Met) c.2002T>A (p.Leu668Met) | |
| 5 | g.37001042T>C | CA443904576 | NIPBL | c.3628T>C (p.Leu1210=) c.1-63536T>C (n.1-63536T>C) c.2884T>C (p.Leu962=) c.3430T>C (p.Leu1144=) c.3247T>C (p.Leu1083=) c.2968T>C (p.Leu990=) c.2011T>C (p.Leu671=) c.2002T>C (p.Leu668=) | |
| 5 | g.37001042T>G | CA359519208 | NIPBL | c.3628T>G (p.Leu1210Val) c.1-63536T>G (n.1-63536T>G) c.2884T>G (p.Leu962Val) c.3430T>G (p.Leu1144Val) c.3247T>G (p.Leu1083Val) c.2968T>G (p.Leu990Val) c.2011T>G (p.Leu671Val) c.2002T>G (p.Leu668Val) | |
| 5 | g.37001043T>A | CA359519241 | NIPBL | c.3629T>A (p.Leu1210Ter) c.1-63535T>A (n.1-63535T>A) c.2885T>A (p.Leu962Ter) c.3431T>A (p.Leu1144Ter) c.3248T>A (p.Leu1083Ter) c.2969T>A (p.Leu990Ter) c.2012T>A (p.Leu671Ter) c.2003T>A (p.Leu668Ter) | |
| 5 | g.37001043T>C | CA359519220 | NIPBL | c.3629T>C (p.Leu1210Ser) c.1-63535T>C (n.1-63535T>C) c.2885T>C (p.Leu962Ser) c.3431T>C (p.Leu1144Ser) c.3248T>C (p.Leu1083Ser) c.2969T>C (p.Leu990Ser) c.2012T>C (p.Leu671Ser) c.2003T>C (p.Leu668Ser) | |
| 5 | g.37001043T>G | CA359519215 | NIPBL | c.3629T>G (p.Leu1210Trp) c.1-63535T>G (n.1-63535T>G) c.2885T>G (p.Leu962Trp) c.3431T>G (p.Leu1144Trp) c.3248T>G (p.Leu1083Trp) c.2969T>G (p.Leu990Trp) c.2012T>G (p.Leu671Trp) c.2003T>G (p.Leu668Trp) | gnomAD v4 |
| 5 | g.37001044G>A | CA3236392 | NIPBL | c.3630G>A (p.Leu1210=) c.1-63534G>A (n.1-63534G>A) c.2886G>A (p.Leu962=) c.3432G>A (p.Leu1144=) c.3249G>A (p.Leu1083=) c.2970G>A (p.Leu990=) c.2013G>A (p.Leu671=) c.2004G>A (p.Leu668=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37001044G>C | CA359519251 | NIPBL | c.3630G>C (p.Leu1210Phe) c.1-63534G>C (n.1-63534G>C) c.2886G>C (p.Leu962Phe) c.3432G>C (p.Leu1144Phe) c.3249G>C (p.Leu1083Phe) c.2970G>C (p.Leu990Phe) c.2013G>C (p.Leu671Phe) c.2004G>C (p.Leu668Phe) | |
| 5 | g.37001044G= | CA1539601608 | NIPBL | c.3630G= (p.Leu1210=) c.1-63534G= (n.1-63534G=) c.2886G= (p.Leu962=) c.3432G= (p.Leu1144=) c.3249G= (p.Leu1083=) c.2970G= (p.Leu990=) c.2013G= (p.Leu671=) c.2004G= (p.Leu668=) | |
| 5 | g.37001044G>T | CA359519253 | NIPBL | c.3630G>T (p.Leu1210Phe) c.1-63534G>T (n.1-63534G>T) c.2886G>T (p.Leu962Phe) c.3432G>T (p.Leu1144Phe) c.3249G>T (p.Leu1083Phe) c.2970G>T (p.Leu990Phe) c.2013G>T (p.Leu671Phe) c.2004G>T (p.Leu668Phe) | |
| 5 | g.37001045G>A | CA359519254 | NIPBL | c.3631G>A (p.Asp1211Asn) c.1-63533G>A (n.1-63533G>A) c.2887G>A (p.Asp963Asn) c.3433G>A (p.Asp1145Asn) c.3250G>A (p.Asp1084Asn) c.2971G>A (p.Asp991Asn) c.2014G>A (p.Asp672Asn) c.2005G>A (p.Asp669Asn) | |
| 5 | g.37001045G>C | CA359519257 | NIPBL | c.3631G>C (p.Asp1211His) c.1-63533G>C (n.1-63533G>C) c.2887G>C (p.Asp963His) c.3433G>C (p.Asp1145His) c.3250G>C (p.Asp1084His) c.2971G>C (p.Asp991His) c.2014G>C (p.Asp672His) c.2005G>C (p.Asp669His) | |
| 5 | g.37001045G>T | CA359519266 | NIPBL | c.3631G>T (p.Asp1211Tyr) c.1-63533G>T (n.1-63533G>T) c.2887G>T (p.Asp963Tyr) c.3433G>T (p.Asp1145Tyr) c.3250G>T (p.Asp1084Tyr) c.2971G>T (p.Asp991Tyr) c.2014G>T (p.Asp672Tyr) c.2005G>T (p.Asp669Tyr) | |
| 5 | g.37001046A>C | CA359519271 | NIPBL | c.3632A>C (p.Asp1211Ala) c.1-63532A>C (n.1-63532A>C) c.2888A>C (p.Asp963Ala) c.3434A>C (p.Asp1145Ala) c.3251A>C (p.Asp1084Ala) c.2972A>C (p.Asp991Ala) c.2015A>C (p.Asp672Ala) c.2006A>C (p.Asp669Ala) |