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 |
|---|---|---|---|---|---|
| 2 | g.189000730_189007456del | CA913190215 | COL3A1 | c.2185-667_3157-44del c.2284-667_3256-44del c.2284-667_2528-598del | ClinVar |
| 2 | g.189001289_189008107del | CA913190216 | COL3A1 | c.2185-108_3391del c.2284-108_3490del c.2284-108_2581del | ClinVar |
| 2 | g.189005611_189008365del | CA913190217 | COL3A1 | c.2940+154_3426+223del c.3039+154_3525+223del c.2528-2443_2616+223del | ClinVar |
| 2 | g.189006079_189007097del | CA913190218 | COL3A1 | c.2941-127_3156+107del c.3040-127_3255+107del c.2528-1975_2528-957del (n.2528-1975_2528-957del) | ClinVar |
| 2 | g.189006394_189006411dup | CA2580065261 | COL3A1 | c.3044_3061dup (p.Gly1020_Pro1021insHisProGlyProProGly) c.3143_3160dup (p.Gly1053_Pro1054insHisProGlyProProGly) c.2528-1660_2528-1643dup (n.2528-1660_2528-1643dup) | ClinVar |
| 2 | g.189006408G>A | CA349845124 | COL3A1 | c.3058G>A (p.Gly1020Ser) c.3157G>A (p.Gly1053Ser) c.2528-1646G>A (n.2528-1646G>A) | |
| 2 | g.189006408G>C | CA006150 | COL3A1 | c.3058G>C (p.Gly1020Arg) c.3157G>C (p.Gly1053Arg) c.2528-1646G>C (n.2528-1646G>C) | ClinVar dbSNP |
| 2 | g.189006408G= | CA1315404109 | COL3A1 | c.3058G= (p.Gly1020=) c.3157G= (p.Gly1053=) c.2528-1646G= (n.2528-1646G=) | |
| 2 | g.189006408G>T | CA349845125 | COL3A1 | c.3058G>T (p.Gly1020Cys) c.3157G>T (p.Gly1053Cys) c.2528-1646G>T (n.2528-1646G>T) | |
| 2 | g.189006409G>A | CA349845126 | COL3A1 | c.3059G>A (p.Gly1020Asp) c.3158G>A (p.Gly1053Asp) c.2528-1645G>A (n.2528-1645G>A) | ClinVar dbSNP |
| 2 | g.189006409G>C | CA349845127 | COL3A1 | c.3059G>C (p.Gly1020Ala) c.3158G>C (p.Gly1053Ala) c.2528-1645G>C (n.2528-1645G>C) | |
| 2 | g.189006409G= | CA1315404110 | COL3A1 | c.3059G= (p.Gly1020=) c.3158G= (p.Gly1053=) c.2528-1645G= (n.2528-1645G=) | |
| 2 | g.189006409G>T | CA349845128 | COL3A1 | c.3059G>T (p.Gly1020Val) c.3158G>T (p.Gly1053Val) c.2528-1645G>T (n.2528-1645G>T) | |
| 2 | g.189006410T>A | CA430312839 | COL3A1 | c.3060T>A (p.Gly1020=) c.3159T>A (p.Gly1053=) c.2528-1644T>A (n.2528-1644T>A) | |
| 2 | g.189006410T>C | CA430312840 | COL3A1 | c.3060T>C (p.Gly1020=) c.3159T>C (p.Gly1053=) c.2528-1644T>C (n.2528-1644T>C) | dbSNP |
| 2 | g.189006410T>G | CA430312842 | COL3A1 | c.3060T>G (p.Gly1020=) c.3159T>G (p.Gly1053=) c.2528-1644T>G (n.2528-1644T>G) | |
| 2 | g.189006410T= | CA1315404111 | COL3A1 | c.3060T= (p.Gly1020=) c.3159T= (p.Gly1053=) c.2528-1644T= (n.2528-1644T=) | |
| 2 | g.189006411C>A | CA349845129 | COL3A1 | c.3061C>A (p.Pro1021Thr) c.3160C>A (p.Pro1054Thr) c.2528-1643C>A (n.2528-1643C>A) | COSMIC |
| 2 | g.189006411C= | CA1315404112 | COL3A1 | c.3061C= (p.Pro1021=) c.3160C= (p.Pro1054=) c.2528-1643C= (n.2528-1643C=) | |
| 2 | g.189006411C>G | CA349845130 | COL3A1 | c.3061C>G (p.Pro1021Ala) c.3160C>G (p.Pro1054Ala) c.2528-1643C>G (n.2528-1643C>G) | |
| 2 | g.189006411C>T | CA349845131 | COL3A1 | c.3061C>T (p.Pro1021Ser) c.3160C>T (p.Pro1054Ser) c.2528-1643C>T (n.2528-1643C>T) | ClinVar dbSNP |
| 2 | g.189006412C>A | CA349845133 | COL3A1 | c.3062C>A (p.Pro1021His) c.3161C>A (p.Pro1054His) c.2528-1642C>A (n.2528-1642C>A) | |
| 2 | g.189006412C>G | CA349845134 | COL3A1 | c.3062C>G (p.Pro1021Arg) c.3161C>G (p.Pro1054Arg) c.2528-1642C>G (n.2528-1642C>G) | gnomAD v4 |
| 2 | g.189006412C>T | CA349845132 | COL3A1 | c.3062C>T (p.Pro1021Leu) c.3161C>T (p.Pro1054Leu) c.2528-1642C>T (n.2528-1642C>T) | COSMIC |
| 2 | g.189006413T>A | CA430312844 | COL3A1 | c.3063T>A (p.Pro1021=) c.3162T>A (p.Pro1054=) c.2528-1641T>A (n.2528-1641T>A) | |
| 2 | g.189006413T>C | CA430312846 | COL3A1 | c.3063T>C (p.Pro1021=) c.3162T>C (p.Pro1054=) c.2528-1641T>C (n.2528-1641T>C) | |
| 2 | g.189006413T>G | CA430312847 | COL3A1 | c.3063T>G (p.Pro1021=) c.3162T>G (p.Pro1054=) c.2528-1641T>G (n.2528-1641T>G) | |
| 2 | g.189006414G>A | CA075894 | COL3A1 | c.3064G>A (p.Val1022Ile) c.3163G>A (p.Val1055Ile) c.2528-1640G>A (n.2528-1640G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189006414G>C | CA349845135 | COL3A1 | c.3064G>C (p.Val1022Leu) c.3163G>C (p.Val1055Leu) c.2528-1640G>C (n.2528-1640G>C) | gnomAD v4 |
| 2 | g.189006414G= | CA1315404113 | COL3A1 | c.3064G= (p.Val1022=) c.3163G= (p.Val1055=) c.2528-1640G= (n.2528-1640G=) | |
| 2 | g.189006414G>T | CA349845136 | COL3A1 | c.3064G>T (p.Val1022Phe) c.3163G>T (p.Val1055Phe) c.2528-1640G>T (n.2528-1640G>T) | gnomAD v4 |
| 2 | g.189006415T>A | CA349845137 | COL3A1 | c.3065T>A (p.Val1022Asp) c.3164T>A (p.Val1055Asp) c.2528-1639T>A (n.2528-1639T>A) | |
| 2 | g.189006415T>C | CA349845138 | COL3A1 | c.3065T>C (p.Val1022Ala) c.3164T>C (p.Val1055Ala) c.2528-1639T>C (n.2528-1639T>C) | |
| 2 | g.189006415T>G | CA349845139 | COL3A1 | c.3065T>G (p.Val1022Gly) c.3164T>G (p.Val1055Gly) c.2528-1639T>G (n.2528-1639T>G) | |
| 2 | g.189006416C>A | CA430312849 | COL3A1 | c.3066C>A (p.Val1022=) c.3165C>A (p.Val1055=) c.2528-1638C>A (n.2528-1638C>A) | gnomAD v4 |
| 2 | g.189006416C= | CA1315404114 | COL3A1 | c.3066C= (p.Val1022=) c.3165C= (p.Val1055=) c.2528-1638C= (n.2528-1638C=) | |
| 2 | g.189006416C>G | CA430312850 | COL3A1 | c.3066C>G (p.Val1022=) c.3165C>G (p.Val1055=) c.2528-1638C>G (n.2528-1638C>G) | |
| 2 | g.189006416C>T | CA430312851 | COL3A1 | c.3066C>T (p.Val1022=) c.3165C>T (p.Val1055=) c.2528-1638C>T (n.2528-1638C>T) | ClinVar dbSNP gnomAD v4 |
| 2 | g.189006417G>A | CA349845140 | COL3A1 | c.3067G>A (p.Gly1023Ser) c.3166G>A (p.Gly1056Ser) c.2528-1637G>A (n.2528-1637G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.189006417G>C | CA349845141 | COL3A1 | c.3067G>C (p.Gly1023Arg) c.3166G>C (p.Gly1056Arg) c.2528-1637G>C (n.2528-1637G>C) | |
| 2 | g.189006417G= | CA1315404115 | COL3A1 | c.3067G= (p.Gly1023=) c.3166G= (p.Gly1056=) c.2528-1637G= (n.2528-1637G=) | |
| 2 | g.189006417G>T | CA349845142 | COL3A1 | c.3067G>T (p.Gly1023Cys) c.3166G>T (p.Gly1056Cys) c.2528-1637G>T (n.2528-1637G>T) | |
| 2 | g.189006418G>A | CA006156 | COL3A1 | c.3068G>A (p.Gly1023Asp) c.3167G>A (p.Gly1056Asp) c.2528-1636G>A (n.2528-1636G>A) | ClinVar dbSNP |
| 2 | g.189006418G>C | CA349845143 | COL3A1 | c.3068G>C (p.Gly1023Ala) c.3167G>C (p.Gly1056Ala) c.2528-1636G>C (n.2528-1636G>C) | |
| 2 | g.189006418G= | CA1315404116 | COL3A1 | c.3068G= (p.Gly1023=) c.3167G= (p.Gly1056=) c.2528-1636G= (n.2528-1636G=) | |
| 2 | g.189006418G>T | CA349845144 | COL3A1 | c.3068G>T (p.Gly1023Val) c.3167G>T (p.Gly1056Val) c.2528-1636G>T (n.2528-1636G>T) | |
| 2 | g.189006419T>A | CA430312854 | COL3A1 | c.3069T>A (p.Gly1023=) c.3168T>A (p.Gly1056=) c.2528-1635T>A (n.2528-1635T>A) | |
| 2 | g.189006419T>C | CA430312856 | COL3A1 | c.3069T>C (p.Gly1023=) c.3168T>C (p.Gly1056=) c.2528-1635T>C (n.2528-1635T>C) | |
| 2 | g.189006419T>G | CA430312857 | COL3A1 | c.3069T>G (p.Gly1023=) c.3168T>G (p.Gly1056=) c.2528-1635T>G (n.2528-1635T>G) | |
| 2 | g.189006420C>A | CA349845146 | COL3A1 | c.3070C>A (p.Pro1024Thr) c.3169C>A (p.Pro1057Thr) c.2528-1634C>A (n.2528-1634C>A) |