Linked Data
dbSNP Id:
rs1655303620
gnomAD v3:
1-165319023-ACACACACACACACACACACC-A
gnomAD v4:
1-165319023-ACACACACACACACACACACC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.165319025_165319044del , CM000663.2:g.165319025_165319044del | GRCh38 |
| NC_000001.10:g.165288262_165288281del , CM000663.1:g.165288262_165288281del | GRCh37 |
| NC_000001.9:g.163554886_163554905del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294816.6:c.263+34033_263+34052del | ENSP00000294816.2:n.263+34033_263+34052del | |
| ENST00000342310.7:c.263+34033_263+34052del MANE Select | ENSP00000340226.3:n.263+34033_263+34052del | |
| ENST00000367893.4:c.263+34033_263+34052del | ENSP00000356868.4:n.263+34033_263+34052del | |
| NM_001174069.1:c.263+34033_263+34052del | NP_001167540.1:n.263+34033_263+34052del | |
| NM_177398.3:c.263+34033_263+34052del | NP_796372.1:n.263+34033_263+34052del | |
| XM_011509540.1:c.263+34033_263+34052del | XP_011507842.1:n.263+34033_263+34052del | |
| XM_011509540.2:c.263+34033_263+34052del | XP_011507842.1:n.263+34033_263+34052del | |
| NM_177398.4:c.263+34033_263+34052del MANE Select | NP_796372.1:n.263+34033_263+34052del | |
| NM_001174069.2:c.263+34033_263+34052del | NP_001167540.1:n.263+34033_263+34052del |