Linked Data
dbSNP Id:
rs1057517030
gnomAD v2:
15-91298161-CTG-C
gnomAD v4:
15-90754931-CTG-C
MyVariant Identifiers:
chr15:g.91298164_91298165del (hg19)
chr15:g.91298162_91298163del (hg19)
chr15:g.90754934_90754935del (hg38)
chr15:g.90754932_90754933del (hg38)
PubMed:
PMID:27356891
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90754934_90754935del , CM000677.2:g.90754934_90754935del | GRCh38 |
| NC_000015.9:g.91298164_91298165del , CM000677.1:g.91298164_91298165del | GRCh37 |
| NC_000015.8:g.89099168_89099169del | NCBI36 |
| NG_007272.1:g.42563_42564del , LRG_20:g.42563_42564del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355112.8:c.1083_1084del MANE Select | ENSP00000347232.3:p.Cys361Ter | |
| ENST00000648453.1:c.1083_1084del | ENSP00000497646.1:p.Cys361Ter | |
| ENST00000680772.1:c.1083_1084del | ENSP00000506117.1:p.Cys361Ter | |
| ENST00000681142.1:c.1083_1084del | ENSP00000506682.1:p.Cys361Ter | |
| ENST00000355112.7:c.1083_1084del | ENSP00000347232.3:p.Cys361Ter | |
| ENST00000558599.1:n.344_345del | ||
| ENST00000559724.5:c.1083_1084del | ENSP00000453359.1:p.Cys361Ter | |
| ENST00000560509.5:c.1083_1084del | ENSP00000454158.1:p.Cys361Ter | |
| NM_000057.3:c.1083_1084del | NP_000048.1:p.Cys361Ter | |
| NM_001287246.1:c.1083_1084del | NP_001274175.1:p.Cys361Ter | |
| NM_001287247.1:c.1083_1084del | NP_001274176.1:p.Cys361Ter | |
| NM_001287248.1:c.-209_-208del | NP_001274177.1:n.-209_-208del | |
| XM_011521881.1:c.-99_-98del | XP_011520183.1:n.-99_-98del | |
| XM_011521882.1:c.1083_1084del | XP_011520184.1:p.Cys361Ter | |
| XM_011521881.2:c.-99_-98del | XP_011520183.1:n.-99_-98del | |
| XM_011521882.3:c.1083_1084del | XP_011520184.1:p.Cys361Ter | |
| NM_000057.4:c.1083_1084del MANE Select | NP_000048.1:p.Cys361Ter | |
| NM_001287246.2:c.1083_1084del | NP_001274175.1:p.Cys361Ter | |
| NM_001287247.2:c.1083_1084del | NP_001274176.1:p.Cys361Ter | |
| NM_001287248.2:c.-209_-208del | NP_001274177.1:n.-209_-208del |