Linked Data
dbSNP Id:
rs1347320269
gnomAD v2:
13-113803693-TGCCCG-T
gnomAD v3:
13-113149379-TGCCCG-T
gnomAD v4:
13-113149379-TGCCCG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113149380_113149384del , CM000675.2:g.113149380_113149384del | GRCh38 |
| NC_000013.10:g.113803694_113803698del , CM000675.1:g.113803694_113803698del | GRCh37 |
| NC_000013.9:g.112851695_112851699del | NCBI36 |
| NG_009258.1:g.31582_31586del , LRG_548:g.31582_31586del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375559.8:c.1330_1334del MANE Select | ENSP00000364709.3:p.Ala444Ter | |
| ENST00000375551.7:c.*321_*325del | ENSP00000364701.3:n.*321_*325del | |
| ENST00000375559.7:c.1330_1334del | ENSP00000364709.3:p.Ala444Ter | |
| ENST00000409306.5:c.*321_*325del | ENSP00000387092.1:n.*321_*325del | |
| NM_000504.3:c.1330_1334del , LRG_548t1:c.1330_1334del | NP_000495.1:p.Ala444Ter | |
| NM_001312674.1:c.1198_1202del | NP_001299603.1:p.Ala400Ter | |
| NM_001312675.1:c.*321_*325del | NP_001299604.1:n.*321_*325del | |
| NM_000504.4:c.1330_1334del MANE Select | NP_000495.1:p.Ala444Ter | |
| NM_001312674.2:c.1198_1202del | NP_001299603.1:p.Ala400Ter | |
| NM_001312675.2:c.*321_*325del | NP_001299604.1:n.*321_*325del |