Linked Data
dbSNP Id:
rs750471052
ExAC:
11:113283469 TGGA / T
gnomAD v2:
11-113283469-TGGA-T
gnomAD v4:
11-113412747-TGGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113412749_113412751del , CM000673.2:g.113412749_113412751del | GRCh38 |
| NC_000011.9:g.113283471_113283473del , CM000673.1:g.113283471_113283473del | GRCh37 |
| NC_000011.8:g.112788681_112788683del | NCBI36 |
| NG_008841.1:g.67530_67532del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000362072.8:c.944_946del MANE Select | ENSP00000354859.3:p.Leu315del | |
| ENST00000346454.7:c.857_859del | ENSP00000278597.5:p.Leu286del | |
| ENST00000362072.7:c.944_946del | ENSP00000354859.3:p.Leu315del | |
| ENST00000538967.5:c.950_952del | ENSP00000438215.1:p.Leu317del | |
| ENST00000542968.5:c.944_946del | ENSP00000442172.1:p.Leu315del | |
| ENST00000544518.5:c.941_943del | ENSP00000441068.1:p.Leu314del | |
| NM_000795.3:c.944_946del | NP_000786.1:p.Leu315del | |
| NM_016574.3:c.857_859del | NP_057658.2:p.Leu286del | |
| XM_017017296.2:c.944_946del | XP_016872785.1:p.Leu315del | |
| NM_000795.4:c.944_946del MANE Select | NP_000786.1:p.Leu315del | |
| NM_016574.4:c.857_859del | NP_057658.2:p.Leu286del |