Linked Data
ClinVar Variation Id:
340844
ClinVar RCV Id:
RCV000380452
dbSNP Id:
rs575240461
gnomAD v2:
22-21242599-T-TCA
gnomAD v3:
22-20888311-T-TCA
gnomAD v4:
22-20888311-T-TCA
MyVariant Identifiers:
chr22:g.21242643_21242644dupAC (hg19)
chr22:g.21242644_21242645insAC (hg19)
chr22:g.21242615_21242616insCA (hg19)
chr22:g.21242599_21242600insCA (hg19)
chr22:g.20888355_20888356dupAC (hg38)
chr22:g.20888356_20888357insAC (hg38)
chr22:g.20888327_20888328insCA (hg38)
chr22:g.20888311_20888312insCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20888355_20888356dup , CM000684.2:g.20888355_20888356dup | GRCh38 |
| NC_000022.10:g.21242643_21242644dup , CM000684.1:g.21242643_21242644dup | GRCh37 |
| NC_000022.9:g.19572643_19572644dup | NCBI36 |
| NG_012152.1:g.34352_34353dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215730.12:c.*519_*520dup MANE Select | ENSP00000215730.6:n.*519_*520dup | |
| ENST00000215730.11:c.*519_*520dup | ENSP00000215730.6:n.*519_*520dup | |
| NM_004782.3:c.*519_*520dup | NP_004773.1:n.*519_*520dup | |
| NM_004782.4:c.*519_*520dup MANE Select | NP_004773.1:n.*519_*520dup |