Linked Data
dbSNP Id:
rs765345269
ExAC:
11:113283432 ATTC / A
gnomAD v2:
11-113283432-ATTC-A
gnomAD v4:
11-113412710-ATTC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113412715_113412717del , CM000673.2:g.113412715_113412717del | GRCh38 |
| NC_000011.9:g.113283437_113283439del , CM000673.1:g.113283437_113283439del | GRCh37 |
| NC_000011.8:g.112788647_112788649del | NCBI36 |
| NG_008841.1:g.67567_67569del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362072.8:c.981_983del MANE Select | ENSP00000354859.3:p.Lys327del | |
| ENST00000346454.7:c.894_896del | ENSP00000278597.5:p.Lys298del | |
| ENST00000362072.7:c.981_983del | ENSP00000354859.3:p.Lys327del | |
| ENST00000538967.5:c.987_989del | ENSP00000438215.1:p.Lys329del | |
| ENST00000542968.5:c.981_983del | ENSP00000442172.1:p.Lys327del | |
| ENST00000544518.5:c.978_980del | ENSP00000441068.1:p.Lys326del | |
| NM_000795.3:c.981_983del | NP_000786.1:p.Lys327del | |
| NM_016574.3:c.894_896del | NP_057658.2:p.Lys298del | |
| XM_017017296.2:c.981_983del | XP_016872785.1:p.Lys327del | |
| NM_000795.4:c.981_983del MANE Select | NP_000786.1:p.Lys327del | |
| NM_016574.4:c.894_896del | NP_057658.2:p.Lys298del |