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 |
|---|---|---|---|---|---|
| X | g.108620257_108620303delinsAGGTTTACATGGAATACCAGGAGAGAAGGGGGATCCAGGACCTCCTG | CA2450695923 | COL4A5 | c.2510-2_2554delinsAGGTTTACATGGAATACCAGGAGAGAAGGGGGATCCAGGACCTCCTG n.1966-2_2010delinsAGGTTTACATGGAATACCAGGAGAGAAGGGGGATCCAGGACCTCCTG c.2186-2_2230delinsAGGTTTACATGGAATACCAGGAGAGAAGGGGGATCCAGGACCTCCTG c.83-2_127delinsAGGTTTACATGGAATACCAGGAGAGAAGGGGGATCCAGGACCTCCTG c.2525-2_2569delinsAGGTTTACATGGAATACCAGGAGAGAAGGGGGATCCAGGACCTCCTG c.845-2_889delinsAGGTTTACATGGAATACCAGGAGAGAAGGGGGATCCAGGACCTCCTG | |
| X | g.108620259_108620304del | CA891843941 | COL4A5 | c.2510_2555del n.1966_2011del c.2186_2231del c.83_128del c.2525_2570del c.845_890del | |
| X | g.108620289_108620312del | CA2580100187 | COL4A5 | c.2540_2563del (p.Asp847_Asp854del) n.1996_2019del c.2216_2239del (p.Asp739_Asp746del) c.113_136del (p.Asp38_Asp45del) c.2555_2578del (p.Asp852_Asp859del) c.875_898del (p.Asp292_Asp299del) | ClinVar |
| X | g.108620289_108620313delinsATCCAGGACCTCCTGGACTTGATGT | CA2450695936 | COL4A5 | c.2540_2564delinsATCCAGGACCTCCTGGACTTGATGT (p.Asp847=) n.1996_2020delinsATCCAGGACCTCCTGGACTTGATGT c.2216_2240delinsATCCAGGACCTCCTGGACTTGATGT (p.Asp739=) c.113_137delinsATCCAGGACCTCCTGGACTTGATGT (p.Asp38=) c.2555_2579delinsATCCAGGACCTCCTGGACTTGATGT (p.Asp852=) c.875_899delinsATCCAGGACCTCCTGGACTTGATGT (p.Asp292=) | |
| X | g.108620299_108620322del | CA258704 | COL4A5 | c.2550_2573del (p.Pro851_Pro858del) n.2006_2029del c.2226_2249del (p.Pro743_Pro750del) c.123_146del (p.Pro42_Pro49del) c.2565_2588del (p.Pro856_Pro863del) c.885_908del (p.Pro296_Pro303del) | dbSNP |
| X | g.108620296A= | CA2450695939 | COL4A5 | c.2547A= (p.Gly849=) n.2003A= c.2223A= (p.Gly741=) c.120A= (p.Gly40=) c.2562A= (p.Gly854=) c.882A= (p.Gly294=) | |
| X | g.108620296A>C | CA517923990 | COL4A5 | c.2547A>C (p.Gly849=) n.2003A>C c.2223A>C (p.Gly741=) c.120A>C (p.Gly40=) c.2562A>C (p.Gly854=) c.882A>C (p.Gly294=) | |
| X | g.108620296A>G | CA517923991 | COL4A5 | c.2547A>G (p.Gly849=) n.2003A>G c.2223A>G (p.Gly741=) c.120A>G (p.Gly40=) c.2562A>G (p.Gly854=) c.882A>G (p.Gly294=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.108620296A>T | CA517923994 | COL4A5 | c.2547A>T (p.Gly849=) n.2003A>T c.2223A>T (p.Gly741=) c.120A>T (p.Gly40=) c.2562A>T (p.Gly854=) c.882A>T (p.Gly294=) | ClinVar |
| X | g.108620297C>A | CA413851328 | COL4A5 | c.2548C>A (p.Pro850Thr) n.2004C>A c.2224C>A (p.Pro742Thr) c.121C>A (p.Pro41Thr) c.2563C>A (p.Pro855Thr) c.883C>A (p.Pro295Thr) | |
| X | g.108620297C= | CA2450695940 | COL4A5 | c.2548C= (p.Pro850=) n.2004C= c.2224C= (p.Pro742=) c.121C= (p.Pro41=) c.2563C= (p.Pro855=) c.883C= (p.Pro295=) | |
| X | g.108620297C>G | CA413851329 | COL4A5 | c.2548C>G (p.Pro850Ala) n.2004C>G c.2224C>G (p.Pro742Ala) c.121C>G (p.Pro41Ala) c.2563C>G (p.Pro855Ala) c.883C>G (p.Pro295Ala) | |
| X | g.108620297C>T | CA413851330 | COL4A5 | c.2548C>T (p.Pro850Ser) n.2004C>T c.2224C>T (p.Pro742Ser) c.121C>T (p.Pro41Ser) c.2563C>T (p.Pro855Ser) c.883C>T (p.Pro295Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108620298C>A | CA413851332 | COL4A5 | c.2549C>A (p.Pro850His) n.2005C>A c.2225C>A (p.Pro742His) c.122C>A (p.Pro41His) c.2564C>A (p.Pro855His) c.884C>A (p.Pro295His) | |
| X | g.108620298C>G | CA413851333 | COL4A5 | c.2549C>G (p.Pro850Arg) n.2005C>G c.2225C>G (p.Pro742Arg) c.122C>G (p.Pro41Arg) c.2564C>G (p.Pro855Arg) c.884C>G (p.Pro295Arg) | |
| X | g.108620298C>T | CA413851331 | COL4A5 | c.2549C>T (p.Pro850Leu) n.2005C>T c.2225C>T (p.Pro742Leu) c.122C>T (p.Pro41Leu) c.2564C>T (p.Pro855Leu) c.884C>T (p.Pro295Leu) | |
| X | g.108620299T>A | CA517923997 | COL4A5 | c.2550T>A (p.Pro850=) n.2006T>A c.2226T>A (p.Pro742=) c.123T>A (p.Pro41=) c.2565T>A (p.Pro855=) c.885T>A (p.Pro295=) | |
| X | g.108620299T>C | CA517923998 | COL4A5 | c.2550T>C (p.Pro850=) n.2006T>C c.2226T>C (p.Pro742=) c.123T>C (p.Pro41=) c.2565T>C (p.Pro855=) c.885T>C (p.Pro295=) | |
| X | g.108620299T>G | CA517924000 | COL4A5 | c.2550T>G (p.Pro850=) n.2006T>G c.2226T>G (p.Pro742=) c.123T>G (p.Pro41=) c.2565T>G (p.Pro855=) c.885T>G (p.Pro295=) | |
| X | g.108620300C>A | CA413851336 | COL4A5 | c.2551C>A (p.Pro851Thr) n.2007C>A c.2227C>A (p.Pro743Thr) c.124C>A (p.Pro42Thr) c.2566C>A (p.Pro856Thr) c.886C>A (p.Pro296Thr) | |
| X | g.108620300C>G | CA413851334 | COL4A5 | c.2551C>G (p.Pro851Ala) n.2007C>G c.2227C>G (p.Pro743Ala) c.124C>G (p.Pro42Ala) c.2566C>G (p.Pro856Ala) c.886C>G (p.Pro296Ala) | |
| X | g.108620300C>T | CA413851335 | COL4A5 | c.2551C>T (p.Pro851Ser) n.2007C>T c.2227C>T (p.Pro743Ser) c.124C>T (p.Pro42Ser) c.2566C>T (p.Pro856Ser) c.886C>T (p.Pro296Ser) | COSMIC COSMIC |
| X | g.108620301C>A | CA413851337 | COL4A5 | c.2552C>A (p.Pro851His) n.2008C>A c.2228C>A (p.Pro743His) c.125C>A (p.Pro42His) c.2567C>A (p.Pro856His) c.887C>A (p.Pro296His) | |
| X | g.108620301C= | CA2450695941 | COL4A5 | c.2552C= (p.Pro851=) n.2008C= c.2228C= (p.Pro743=) c.125C= (p.Pro42=) c.2567C= (p.Pro856=) c.887C= (p.Pro296=) | |
| X | g.108620301C>G | CA413851338 | COL4A5 | c.2552C>G (p.Pro851Arg) n.2008C>G c.2228C>G (p.Pro743Arg) c.125C>G (p.Pro42Arg) c.2567C>G (p.Pro856Arg) c.887C>G (p.Pro296Arg) | dbSNP gnomAD v4 COSMIC COSMIC |
| X | g.108620301C>T | CA413851339 | COL4A5 | c.2552C>T (p.Pro851Leu) n.2008C>T c.2228C>T (p.Pro743Leu) c.125C>T (p.Pro42Leu) c.2567C>T (p.Pro856Leu) c.887C>T (p.Pro296Leu) | |
| X | g.108620302T>A | CA517924007 | COL4A5 | c.2553T>A (p.Pro851=) n.2009T>A c.2229T>A (p.Pro743=) c.126T>A (p.Pro42=) c.2568T>A (p.Pro856=) c.888T>A (p.Pro296=) | |
| X | g.108620302T>C | CA517924011 | COL4A5 | c.2553T>C (p.Pro851=) n.2009T>C c.2229T>C (p.Pro743=) c.126T>C (p.Pro42=) c.2568T>C (p.Pro856=) c.888T>C (p.Pro296=) | |
| X | g.108620302T>G | CA517924009 | COL4A5 | c.2553T>G (p.Pro851=) n.2009T>G c.2229T>G (p.Pro743=) c.126T>G (p.Pro42=) c.2568T>G (p.Pro856=) c.888T>G (p.Pro296=) | |
| X | g.108620303G>A | CA258707 | COL4A5 | c.2554G>A (p.Gly852Arg) n.2010G>A c.2230G>A (p.Gly744Arg) c.127G>A (p.Gly43Arg) c.2569G>A (p.Gly857Arg) c.889G>A (p.Gly297Arg) | ClinVar dbSNP |
| X | g.108620303G>C | CA413851341 | COL4A5 | c.2554G>C (p.Gly852Arg) n.2010G>C c.2230G>C (p.Gly744Arg) c.127G>C (p.Gly43Arg) c.2569G>C (p.Gly857Arg) c.889G>C (p.Gly297Arg) | |
| X | g.108620303G= | CA2450695942 | COL4A5 | c.2554G= (p.Gly852=) n.2010G= c.2230G= (p.Gly744=) c.127G= (p.Gly43=) c.2569G= (p.Gly857=) c.889G= (p.Gly297=) | |
| X | g.108620303G>T | CA413851340 | COL4A5 | c.2554G>T (p.Gly852Ter) n.2010G>T c.2230G>T (p.Gly744Ter) c.127G>T (p.Gly43Ter) c.2569G>T (p.Gly857Ter) c.889G>T (p.Gly297Ter) | |
| X | g.108620304G>A | CA258709 | COL4A5 | c.2555G>A (p.Gly852Glu) n.2011G>A c.2231G>A (p.Gly744Glu) c.128G>A (p.Gly43Glu) c.2570G>A (p.Gly857Glu) c.890G>A (p.Gly297Glu) | ClinVar dbSNP |
| X | g.108620304G>C | CA413851342 | COL4A5 | c.2555G>C (p.Gly852Ala) n.2011G>C c.2231G>C (p.Gly744Ala) c.128G>C (p.Gly43Ala) c.2570G>C (p.Gly857Ala) c.890G>C (p.Gly297Ala) | |
| X | g.108620304G= | CA2450695943 | COL4A5 | c.2555G= (p.Gly852=) n.2011G= c.2231G= (p.Gly744=) c.128G= (p.Gly43=) c.2570G= (p.Gly857=) c.890G= (p.Gly297=) | |
| X | g.108620304G>T | CA413851343 | COL4A5 | c.2555G>T (p.Gly852Val) n.2011G>T c.2231G>T (p.Gly744Val) c.128G>T (p.Gly43Val) c.2570G>T (p.Gly857Val) c.890G>T (p.Gly297Val) | |
| X | g.108620305A>C | CA517924019 | COL4A5 | c.2556A>C (p.Gly852=) n.2012A>C c.2232A>C (p.Gly744=) c.129A>C (p.Gly43=) c.2571A>C (p.Gly857=) c.891A>C (p.Gly297=) | |
| X | g.108620305A>G | CA517924020 | COL4A5 | c.2556A>G (p.Gly852=) n.2012A>G c.2232A>G (p.Gly744=) c.129A>G (p.Gly43=) c.2571A>G (p.Gly857=) c.891A>G (p.Gly297=) | |
| X | g.108620305A>T | CA517924021 | COL4A5 | c.2556A>T (p.Gly852=) n.2012A>T c.2232A>T (p.Gly744=) c.129A>T (p.Gly43=) c.2571A>T (p.Gly857=) c.891A>T (p.Gly297=) | |
| X | g.108620306C>A | CA413851344 | COL4A5 | c.2557C>A (p.Leu853Ile) n.2013C>A c.2233C>A (p.Leu745Ile) c.130C>A (p.Leu44Ile) c.2572C>A (p.Leu858Ile) c.892C>A (p.Leu298Ile) | |
| X | g.108620306C>G | CA413851345 | COL4A5 | c.2557C>G (p.Leu853Val) n.2013C>G c.2233C>G (p.Leu745Val) c.130C>G (p.Leu44Val) c.2572C>G (p.Leu858Val) c.892C>G (p.Leu298Val) | |
| X | g.108620306C>T | CA413851346 | COL4A5 | c.2557C>T (p.Leu853Phe) n.2013C>T c.2233C>T (p.Leu745Phe) c.130C>T (p.Leu44Phe) c.2572C>T (p.Leu858Phe) c.892C>T (p.Leu298Phe) | gnomAD v4 |
| X | g.108620307T>A | CA413851349 | COL4A5 | c.2558T>A (p.Leu853His) n.2014T>A c.2234T>A (p.Leu745His) c.131T>A (p.Leu44His) c.2573T>A (p.Leu858His) c.893T>A (p.Leu298His) | COSMIC COSMIC |
| X | g.108620307T>C | CA413851347 | COL4A5 | c.2558T>C (p.Leu853Pro) n.2014T>C c.2234T>C (p.Leu745Pro) c.131T>C (p.Leu44Pro) c.2573T>C (p.Leu858Pro) c.893T>C (p.Leu298Pro) | |
| X | g.108620307T>G | CA413851348 | COL4A5 | c.2558T>G (p.Leu853Arg) n.2014T>G c.2234T>G (p.Leu745Arg) c.131T>G (p.Leu44Arg) c.2573T>G (p.Leu858Arg) c.893T>G (p.Leu298Arg) | dbSNP |
| X | g.108620307T= | CA2450695944 | COL4A5 | c.2558T= (p.Leu853=) n.2014T= c.2234T= (p.Leu745=) c.131T= (p.Leu44=) c.2573T= (p.Leu858=) c.893T= (p.Leu298=) | |
| X | g.108620308T>A | CA517924029 | COL4A5 | c.2559T>A (p.Leu853=) n.2015T>A c.2235T>A (p.Leu745=) c.132T>A (p.Leu44=) c.2574T>A (p.Leu858=) c.894T>A (p.Leu298=) | |
| X | g.108620308T>C | CA517924033 | COL4A5 | c.2559T>C (p.Leu853=) n.2015T>C c.2235T>C (p.Leu745=) c.132T>C (p.Leu44=) c.2574T>C (p.Leu858=) c.894T>C (p.Leu298=) | ClinVar |
| X | g.108620308T>G | CA517924031 | COL4A5 | c.2559T>G (p.Leu853=) n.2015T>G c.2235T>G (p.Leu745=) c.132T>G (p.Leu44=) c.2574T>G (p.Leu858=) c.894T>G (p.Leu298=) |