Linked Data
ClinVar Variation Id:
235762
ClinVar RCV Id:
RCV000224564
dbSNP Id:
rs5792431
gnomAD v2:
11-67807143-A-AC
gnomAD v3:
11-68039676-A-AC
gnomAD v4:
11-68039676-A-AC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68039679dup , CM000673.2:g.68039679dup | GRCh38 |
| NC_000011.9:g.67807146dup , CM000673.1:g.67807146dup | GRCh37 |
| NC_000011.8:g.67563722dup | NCBI36 |
| NG_007878.1:g.5664dup , LRG_115:g.5664dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698254.1:c.-5+560dup | ENSP00000513629.1:n.-5+560dup | |
| ENST00000698255.1:c.-5+560dup | ENSP00000513630.1:n.-5+560dup | |
| ENST00000265686.8:c.-5+560dup MANE Select | ENSP00000265686.3:n.-5+560dup | |
| ENST00000265686.7:c.-5+560dup | ENSP00000265686.3:n.-5+560dup | |
| ENST00000524598.5:c.-5+560dup | ENSP00000432846.1:n.-5+560dup | |
| ENST00000529657.1:c.-175-113dup | ENSP00000435023.1:n.-175-113dup | |
| ENST00000533947.1:n.5+560dup | ||
| ENST00000534673.5:c.-5+560dup | ENSP00000431174.1:n.-5+560dup | |
| NM_006019.3:c.-5+560dup | NP_006010.2:n.-5+560dup | |
| XM_005273709.2:c.-175-113dup | XP_005273766.1:n.-175-113dup | |
| NM_001351059.1:c.-1254+560dup | NP_001337988.1:n.-1254+560dup | |
| XM_024448320.1:c.-5+560dup | XP_024304088.1:n.-5+560dup | |
| XM_024448321.1:c.-175-113dup | XP_024304089.1:n.-175-113dup | |
| XM_024448323.1:c.-5+560dup | XP_024304091.1:n.-5+560dup | |
| XM_024448324.1:c.-5+560dup | XP_024304092.1:n.-5+560dup | |
| XR_001747721.2:n.120+560dup | ||
| XR_001747722.1:n.117+560dup | ||
| XR_001747723.2:n.117+560dup | ||
| XR_002957115.1:n.118+560dup | ||
| NM_006019.4:c.-5+560dup MANE Select | NP_006010.2:n.-5+560dup | |
| NM_001351059.2:c.-1254+560dup | NP_001337988.1:n.-1254+560dup |