Linked Data
dbSNP Id:
rs756004340
ExAC:
12:32977117 CA / C
gnomAD v2:
12-32977117-CA-C
gnomAD v3:
12-32824183-CA-C
gnomAD v4:
12-32824183-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32824189del , CM000674.2:g.32824189del | GRCh38 |
| NC_000012.11:g.32977123del , CM000674.1:g.32977123del | GRCh37 |
| NC_000012.10:g.32868390del | NCBI36 |
| NG_009000.1:g.77663del , LRG_398:g.77663del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700555.2:n.69-22del | ||
| ENST00000700559.2:c.1557-22del | ENSP00000515065.2:n.1557-22del | |
| ENST00000700563.2:c.1557-22del | ENSP00000515066.2:n.1557-22del | |
| ENST00000546498.2:n.222del | ||
| ENST00000700555.1:c.-4-22del | ENSP00000515062.1:n.-4-22del | |
| ENST00000700556.1:c.28-22del | ||
| ENST00000700559.1:c.772-22del | ||
| ENST00000700560.1:n.772-22del | ||
| ENST00000700561.1:n.898-22del | ||
| ENST00000700563.1:c.1511-22del | ||
| ENST00000700564.1:n.1561-22del | ||
| ENST00000070846.11:c.1689-22del | ENSP00000070846.6:n.1689-22del | |
| ENST00000340811.9:c.1557-22del MANE Select | ENSP00000342800.5:n.1557-22del | |
| ENST00000070846.10:c.1689-22del | ENSP00000070846.6:n.1689-22del | |
| ENST00000340811.8:c.1557-22del | ENSP00000342800.4:n.1557-22del | |
| ENST00000546498.1:n.222del | ||
| ENST00000613243.1:c.1689-22del | ENSP00000478295.1:n.1689-22del | |
| NM_001005242.2:c.1557-22del | NP_001005242.2:n.1557-22del | |
| NM_004572.3:c.1689-22del , LRG_398t1:c.1689-22del | NP_004563.2:n.1689-22del | |
| NM_001005242.3:c.1557-22del MANE Select | NP_001005242.2:n.1557-22del | |
| NM_004572.4:c.1689-22del | NP_004563.2:n.1689-22del |