Linked Data
dbSNP Id:
rs763645197
ExAC:
3:121740914 G / GGCCAT
gnomAD v2:
3-121740914-G-GGCCAT
gnomAD v3:
3-122022067-G-GGCCAT
gnomAD v4:
3-122022067-G-GGCCAT
MyVariant Identifiers:
chr3:g.121740914_121740915insGCCAT (hg19)
chr3:g.122022067_122022068insGCCAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.122022076_122022080dup , CM000665.2:g.122022076_122022080dup | GRCh38 |
| NC_000003.11:g.121740923_121740927dup , CM000665.1:g.121740923_121740927dup | GRCh37 |
| NC_000003.10:g.123223613_123223617dup | NCBI36 |
| NG_031870.1:g.5209_5213dup | |
| NG_031870.2:g.43483_43487dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344209.10:c.6_10dup MANE Select | ENSP00000345667.5:p.Pro4HisfsTer25 | |
| ENST00000642615.1:c.6_10dup | ENSP00000495499.1:p.Pro4HisfsTer25 | |
| ENST00000273691.7:c.6_10dup | ENSP00000273691.3:p.Pro4HisfsTer25 | |
| ENST00000344209.9:c.6_10dup | ENSP00000345667.5:p.Pro4HisfsTer25 | |
| ENST00000393631.5:c.6_10dup | ENSP00000377251.1:p.Pro4HisfsTer25 | |
| ENST00000460554.1:n.127_131dup | ||
| NM_001199799.1:c.6_10dup | NP_001186728.1:p.Pro4HisfsTer25 | |
| NM_001199800.1:c.6_10dup | NP_001186729.1:p.Pro4HisfsTer25 | |
| NM_175924.3:c.6_10dup | NP_787120.1:p.Pro4HisfsTer25 | |
| XM_011512738.1:c.6_10dup | XP_011511040.1:p.Pro4HisfsTer25 | |
| XM_011512739.1:c.-347-14911_-347-14907dup | XP_011511041.1:n.-347-14911_-347-14907dup | |
| XM_011512738.2:c.6_10dup | XP_011511040.1:p.Pro4HisfsTer25 | |
| XM_011512739.2:c.-347-14911_-347-14907dup | XP_011511041.1:n.-347-14911_-347-14907dup | |
| NM_001199799.2:c.6_10dup MANE Select | NP_001186728.1:p.Pro4HisfsTer25 | |
| NM_001199800.2:c.6_10dup | NP_001186729.1:p.Pro4HisfsTer25 | |
| NM_175924.4:c.6_10dup | NP_787120.1:p.Pro4HisfsTer25 |