Linked Data
ClinVar Variation Id:
208341
ClinVar RCV Id:
RCV000190421
dbSNP Id:
rs779565865
ExAC:
11:108004574 AC / A
gnomAD v2:
11-108004574-AC-A
gnomAD v3:
11-108133847-AC-A
gnomAD v4:
11-108133847-AC-A
PubMed:
PMID:9744475
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108133848del , CM000673.2:g.108133848del | GRCh38 |
| NC_000011.9:g.108004575del , CM000673.1:g.108004575del | GRCh37 |
| NC_000011.8:g.107509785del | NCBI36 |
| NG_009888.1:g.17318del | |
| NG_009888.2:g.22144del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265838.9:c.149del MANE Select | ENSP00000265838.4:p.Thr50AsnfsTer7 | |
| ENST00000671707.1:n.244del | ||
| ENST00000672008.1:c.149del | ENSP00000500499.1:p.Thr50AsnfsTer7 | |
| ENST00000672031.1:c.149del | ENSP00000500463.1:p.Thr50AsnfsTer7 | |
| ENST00000672284.1:c.-122del | ENSP00000500444.1:n.-122del | |
| ENST00000672354.1:c.149del | ENSP00000500490.1:p.Thr50AsnfsTer7 | |
| ENST00000672367.1:c.73-5050del | ENSP00000500209.1:n.73-5050del | |
| ENST00000672580.1:c.149del | ENSP00000500366.1:p.Thr50AsnfsTer7 | |
| ENST00000672907.1:c.120+1894del | ENSP00000500928.1:n.120+1894del | |
| ENST00000673000.1:n.237del | ||
| ENST00000673531.1:c.-122del | ENSP00000500163.1:n.-122del | |
| ENST00000265838.8:c.149del | ENSP00000265838.4:p.Thr50AsnfsTer7 | |
| ENST00000299355.10:c.149del | ENSP00000299355.6:p.Thr50AsnfsTer7 | |
| ENST00000524833.5:n.189del | ||
| ENST00000527942.5:c.-122del | ENSP00000433568.1:n.-122del | |
| ENST00000531813.5:c.149del | ENSP00000435965.1:p.Thr50AsnfsTer7 | |
| ENST00000531853.5:n.413del | ||
| NM_000019.3:c.149del | NP_000010.1:p.Thr50AsnfsTer7 | |
| XM_006718834.2:c.-122del | XP_006718897.1:n.-122del | |
| XM_006718835.2:c.-122del | XP_006718898.1:n.-122del | |
| XM_006718835.3:c.-122del | XP_006718898.1:n.-122del | |
| XM_017017681.1:c.-122del | XP_016873170.1:n.-122del | |
| XM_017017682.2:c.-129del | XP_016873171.1:n.-129del | |
| XM_017017683.2:c.-129del | XP_016873172.1:n.-129del | |
| XM_024448511.1:c.-122del | XP_024304279.1:n.-122del | |
| XM_024448512.1:c.-122del | XP_024304280.1:n.-122del | |
| XM_024448513.1:c.-122del | XP_024304281.1:n.-122del | |
| XM_024448514.1:c.-122del | XP_024304282.1:n.-122del | |
| XM_024448515.1:c.-122del | XP_024304283.1:n.-122del | |
| NM_000019.4:c.149del MANE Select | NP_000010.1:p.Thr50AsnfsTer7 | |
| NM_001386677.1:c.149del | NP_001373606.1:p.Thr50AsnfsTer7 | |
| NM_001386678.1:c.120+1894del | NP_001373607.1:n.120+1894del | |
| NM_001386679.1:c.-129del | NP_001373608.1:n.-129del | |
| NM_001386681.1:c.-122del | NP_001373610.1:n.-122del | |
| NM_001386682.1:c.-122del | NP_001373611.1:n.-122del | |
| NM_001386685.1:c.-122del | NP_001373614.1:n.-122del | |
| NM_001386686.1:c.-122del | NP_001373615.1:n.-122del | |
| NM_001386687.1:c.-122del | NP_001373616.1:n.-122del | |
| NM_001386688.1:c.-122del | NP_001373617.1:n.-122del | |
| NM_001386689.1:c.-122del | NP_001373618.1:n.-122del | |
| NM_001386690.1:c.-122del | NP_001373619.1:n.-122del | |
| NM_001386691.1:c.-122del | NP_001373620.1:n.-122del | |
| NR_170162.1:n.189del | ||
| NR_170163.1:n.283del |