Linked Data
ClinVar Variation Id:
311420
ClinVar RCV Id:
RCV000296961
dbSNP Id:
rs752566182
ExAC:
13:22246014 T / TA
gnomAD v2:
13-22246014-T-TA
gnomAD v3:
13-21671875-T-TA
gnomAD v4:
13-21671875-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.21671876dup , CM000675.2:g.21671876dup | GRCh38 |
| NC_000013.10:g.22246015dup , CM000675.1:g.22246015dup | GRCh37 |
| NC_000013.9:g.21144015dup | NCBI36 |
| NG_016272.1:g.5801dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382353.6:c.-37dup MANE Select | ENSP00000371790.5:n.-37dup | |
| ENST00000382353.5:c.-37dup | ENSP00000371790.5:n.-37dup | |
| NM_002010.2:c.-37dup | NP_002001.1:n.-37dup | |
| NM_002010.3:c.-37dup MANE Select | NP_002001.1:n.-37dup |