Linked Data
dbSNP Id:
rs1290811886
gnomAD v2:
1-15772385-GCATT-G
gnomAD v3:
1-15445890-GCATT-G
gnomAD v4:
1-15445890-GCATT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445899_15445902del , CM000663.2:g.15445899_15445902del | GRCh38 |
| NC_000001.10:g.15772394_15772397del , CM000663.1:g.15772394_15772397del | GRCh37 |
| NC_000001.9:g.15644981_15644984del | NCBI36 |
| NG_009253.1:g.12457_12460del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.792+150_792+153del MANE Select | ENSP00000365116.4:n.792+150_792+153del | |
| ENST00000375943.6:c.*246+150_*246+153del | ENSP00000365110.2:n.*246+150_*246+153del | |
| ENST00000375949.4:c.792+150_792+153del | ENSP00000365116.4:n.792+150_792+153del | |
| ENST00000483406.1:n.556+150_556+153del | ||
| NM_007272.2:c.792+150_792+153del | NP_009203.2:n.792+150_792+153del | |
| XM_011540550.1:c.646+150_646+153del | XP_011538852.1:n.646+150_646+153del | |
| NM_007272.3:c.792+150_792+153del MANE Select | NP_009203.2:n.792+150_792+153del |