Linked Data
dbSNP Id:
rs1560446669
gnomAD v2:
4-38780607-A-ATTTCTC
gnomAD v3:
4-38778986-A-ATTTCTC
gnomAD v4:
4-38778986-A-ATTTCTC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.38778994_38778999dup , CM000666.2:g.38778994_38778999dup | GRCh38 |
| NC_000004.11:g.38780615_38780620dup , CM000666.1:g.38780615_38780620dup | GRCh37 |
| NC_000004.10:g.38457010_38457015dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308973.9:c.-568-2566_-568-2561dup MANE Select | ENSP00000308925.4:n.-568-2566_-568-2561dup | |
| ENST00000308973.8:c.-568-2566_-568-2561dup | ENSP00000308925.4:n.-568-2566_-568-2561dup | |
| ENST00000361424.6:c.-62-3340_-62-3335dup | ENSP00000354459.2:n.-62-3340_-62-3335dup | |
| ENST00000502321.5:c.-324-2566_-324-2561dup | ENSP00000427606.1:n.-324-2566_-324-2561dup | |
| ENST00000507953.1:n.130_135dup | ||
| ENST00000613579.4:c.-379-2566_-379-2561dup | ENSP00000478206.1:n.-379-2566_-379-2561dup | |
| ENST00000622002.4:c.-251-3029_-251-3024dup | ENSP00000478985.1:n.-251-3029_-251-3024dup | |
| NM_001017388.2:c.-62-3340_-62-3335dup | NP_001017388.1:n.-62-3340_-62-3335dup | |
| NM_001195106.1:c.-379-2566_-379-2561dup | NP_001182035.1:n.-379-2566_-379-2561dup | |
| NM_001195107.1:c.-251-3029_-251-3024dup | NP_001182036.1:n.-251-3029_-251-3024dup | |
| NM_001195108.1:c.-324-2566_-324-2561dup | NP_001182037.1:n.-324-2566_-324-2561dup | |
| NM_030956.3:c.-568-2566_-568-2561dup | NP_112218.2:n.-568-2566_-568-2561dup | |
| XM_011513760.1:c.-7-3437_-7-3432dup | XP_011512062.1:n.-7-3437_-7-3432dup | |
| XM_011513761.1:c.-590_-585dup | XP_011512063.1:n.-590_-585dup | |
| XM_011513762.1:c.-349-2785_-349-2780dup | XP_011512064.1:n.-349-2785_-349-2780dup | |
| XM_011513760.2:c.-7-3437_-7-3432dup | XP_011512062.1:n.-7-3437_-7-3432dup | |
| XM_011513761.2:c.-590_-585dup | XP_011512063.1:n.-590_-585dup | |
| XM_011513762.2:c.-349-2785_-349-2780dup | XP_011512064.1:n.-349-2785_-349-2780dup | |
| NM_030956.4:c.-568-2566_-568-2561dup MANE Select | NP_112218.2:n.-568-2566_-568-2561dup | |
| NM_001195108.2:c.-324-2566_-324-2561dup | NP_001182037.1:n.-324-2566_-324-2561dup | |
| NM_001017388.3:c.-62-3340_-62-3335dup | NP_001017388.1:n.-62-3340_-62-3335dup | |
| NM_001195106.2:c.-379-2566_-379-2561dup | NP_001182035.1:n.-379-2566_-379-2561dup | |
| NM_001195107.2:c.-251-3029_-251-3024dup | NP_001182036.1:n.-251-3029_-251-3024dup |