Linked Data
dbSNP Id:
rs763402355
ExAC:
12:103310955 AC / A
gnomAD v2:
12-103310955-AC-A
gnomAD v3:
12-102917177-AC-A
gnomAD v4:
12-102917177-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102917178del , CM000674.2:g.102917178del | GRCh38 |
| NC_000012.11:g.103310956del , CM000674.1:g.103310956del | GRCh37 |
| NC_000012.10:g.101835086del | NCBI36 |
| NG_008690.1:g.5425del | |
| NG_008690.2:g.46233del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.-48del MANE Select | ENSP00000448059.1:n.-48del | |
| ENST00000307000.7:c.-195del | ENSP00000303500.2:n.-195del | |
| ENST00000546708.5:n.540del | ||
| ENST00000546844.1:c.-48del | ENSP00000446658.1:n.-48del | |
| ENST00000547319.1:n.264del | ||
| ENST00000549111.5:n.49del | ||
| ENST00000551337.5:c.-48del | ENSP00000447620.1:n.-48del | |
| ENST00000551988.5:n.42del | ||
| ENST00000553106.5:c.-48del | ENSP00000448059.1:n.-48del | |
| ENST00000635500.1:n.29-4280del | ||
| NM_000277.1:c.-48del | NP_000268.1:n.-48del | |
| XM_011538422.1:c.-48del | XP_011536724.1:n.-48del | |
| NM_000277.2:c.-48del | NP_000268.1:n.-48del | |
| NM_001354304.1:c.-48del | NP_001341233.1:n.-48del | |
| XM_017019370.2:c.-48del | XP_016874859.1:n.-48del | |
| NM_000277.3:c.-48del MANE Select | NP_000268.1:n.-48del | |
| NM_001354304.2:c.-48del | NP_001341233.1:n.-48del |