Linked Data
ClinVar Variation Id:
18268
ClinVar RCV Id:
RCV000019930
dbSNP Id:
rs387906582
gnomAD v4:
9-127868413-TGTC-T
PubMed:
PMID:12649162
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127868417_127868419del , CM000671.2:g.127868417_127868419del | GRCh38 |
| NC_000009.11:g.130630696_130630698del , CM000671.1:g.130630696_130630698del | GRCh37 |
| NC_000009.10:g.129670517_129670519del | NCBI36 |
| NG_011792.1:g.14328_14330del | |
| NG_011792.2:g.14328_14330del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476274.7:n.921_923del | ||
| ENST00000643029.1:c.*2096_*2098del | ENSP00000496586.1:n.*2096_*2098del | |
| ENST00000643338.1:c.*1985_*1987del | ENSP00000495890.1:n.*1985_*1987del | |
| ENST00000644144.2:c.421_423del MANE Select | ENSP00000494600.1:p.Asp141del | |
| ENST00000645007.1:c.*2345_*2347del | ENSP00000494773.1:n.*2345_*2347del | |
| ENST00000646171.1:c.*454_*456del | ENSP00000495484.1:n.*454_*456del | |
| ENST00000223836.10:c.469_471del | ENSP00000223836.10:p.Asp157del | |
| ENST00000373156.5:c.421_423del | ENSP00000362249.1:p.Asp141del | |
| ENST00000373176.5:c.421_423del | ENSP00000362271.1:p.Asp141del | |
| ENST00000413016.5:c.243_245del | ||
| ENST00000550143.5:c.201_203del | ENSP00000449130.1:n.201_203del | |
| NM_000476.2:c.421_423del | NP_000467.1:p.Asp141del | |
| XM_005251786.2:c.469_471del | XP_005251843.1:p.Asp157del | |
| XM_011518348.1:c.421_423del | XP_011516650.1:p.Asp141del | |
| XM_011518349.1:c.241_243del | XP_011516651.1:p.Asp81del | |
| NM_001318121.1:c.421_423del | NP_001305050.1:p.Asp141del | |
| NM_001318122.1:c.469_471del | NP_001305051.1:p.Asp157del | |
| XM_017014428.1:c.421_423del | XP_016869917.1:p.Asp141del | |
| XM_024447439.1:c.400_402del | XP_024303207.1:p.Asp134del | |
| XM_024447440.1:c.241_243del | XP_024303208.1:p.Asp81del | |
| NM_001318122.2:c.469_471del | NP_001305051.1:p.Asp157del | |
| NM_000476.3:c.421_423del MANE Select | NP_000467.1:p.Asp141del | |
| NR_174625.1:n.3740_3742del | ||
| NR_174626.1:n.3583_3585del | ||
| NR_174627.1:n.3620_3622del | ||
| NR_174628.1:n.2998_3000del | ||
| NR_174629.1:n.2943_2945del | ||
| NR_174630.1:n.2979_2981del | ||
| NR_174631.1:n.2924_2926del | ||
| NR_174632.1:n.3013_3015del |