Linked Data
dbSNP Id:
rs758729820
gnomAD v2:
6-35607561-AG-A
gnomAD v3:
6-35639784-AG-A
gnomAD v4:
6-35639784-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35639785del , CM000668.2:g.35639785del | GRCh38 |
| NC_000006.11:g.35607562del , CM000668.1:g.35607562del | GRCh37 |
| NC_000006.10:g.35715540del | NCBI36 |
| NG_012645.2:g.93799del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357266.9:c.106-2627del MANE Select | ENSP00000349811.3:n.106-2627del | |
| ENST00000357266.8:c.106-2627del | ENSP00000349811.3:n.106-2627del | |
| ENST00000536438.5:c.106-2627del | ENSP00000444810.1:n.106-2627del | |
| ENST00000539068.5:c.106-2627del | ENSP00000441205.1:n.106-2627del | |
| ENST00000542713.1:c.106-2627del | ENSP00000442340.1:n.106-2627del | |
| NM_001145775.2:c.106-2627del | NP_001139247.1:n.106-2627del | |
| NM_001145776.1:c.106-2627del | NP_001139248.1:n.106-2627del | |
| NM_001145777.1:c.106-2627del | NP_001139249.1:n.106-2627del | |
| NM_004117.3:c.106-2627del | NP_004108.1:n.106-2627del | |
| XR_926743.1:n.287+5965del | ||
| XR_002956345.1:n.1483-9565del | ||
| NM_001145775.3:c.106-2627del | NP_001139247.1:n.106-2627del | |
| NM_001145776.2:c.106-2627del | NP_001139248.1:n.106-2627del | |
| NM_001145777.2:c.106-2627del | NP_001139249.1:n.106-2627del | |
| NM_004117.4:c.106-2627del MANE Select | NP_004108.1:n.106-2627del |