Linked Data
dbSNP Id:
rs76225423
gnomAD v2:
6-1610608-CCGGCG-C
gnomAD v3:
6-1610373-CCGGCG-C
gnomAD v4:
6-1610373-CCGGCG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1610383_1610387del , CM000668.2:g.1610383_1610387del | GRCh38 |
| NC_000006.11:g.1610618_1610622del , CM000668.1:g.1610618_1610622del | GRCh37 |
| NC_000006.10:g.1555617_1555621del | NCBI36 |
| NG_009368.1:g.4938_4942del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.-63_-59del MANE Select | ENSP00000493906.1:n.-63_-59del | |
| ENST00000380874.3:c.-63_-59del | ENSP00000370256.2:n.-63_-59del | |
| NM_001453.3:c.-63_-59del MANE Select | NP_001444.2:n.-63_-59del |