Linked Data
ClinVar Variation Id:
2872563
ClinVar RCV Id:
RCV003608466
dbSNP Id:
rs1373444387
gnomAD v2:
2-31805673-CA-C
gnomAD v3:
2-31580603-CA-C
gnomAD v4:
2-31580603-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31580605del , CM000664.2:g.31580605del | GRCh38 |
| NC_000002.11:g.31805675del , CM000664.1:g.31805675del | GRCh37 |
| NC_000002.10:g.31659179del | NCBI36 |
| NG_008365.1:g.5368del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622030.2:c.281+16del MANE Select | ENSP00000477587.1:n.281+16del | |
| ENST00000622030.1:c.281+16del | ENSP00000477587.1:n.281+16del | |
| NM_000348.3:c.281+16del | NP_000339.2:n.281+16del | |
| XM_011533068.1:c.281+16del | XP_011531370.1:n.281+16del | |
| XM_011533070.1:c.27-46838del | XP_011531372.1:n.27-46838del | |
| XM_011533071.1:c.27-46838del | XP_011531373.1:n.27-46838del | |
| XM_011533072.1:c.27-46838del | XP_011531374.1:n.27-46838del | |
| XM_011533072.2:c.27-46838del | XP_011531374.1:n.27-46838del | |
| NM_000348.4:c.281+16del MANE Select | NP_000339.2:n.281+16del |