Linked Data
ClinVar Variation Id:
1677043
ClinVar RCV Id:
RCV002222901
dbSNP Id:
rs2142182514
gnomAD v4:
17-14076967-CAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.14076970_14076971del , CM000679.2:g.14076970_14076971del | GRCh38 |
| NC_000017.10:g.13980287_13980288del , CM000679.1:g.13980287_13980288del | GRCh37 |
| NC_000017.9:g.13921012_13921013del | NCBI36 |
| NG_008034.1:g.12569_12570del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261643.8:c.413_414del MANE Select | ENSP00000261643.3:p.Lys138ArgfsTer14 | |
| ENST00000664217.1:c.413_414del | ENSP00000499396.1:p.Lys138ArgfsTer14 | |
| ENST00000670279.1:c.413_414del | ENSP00000499450.1:p.Lys138ArgfsTer14 | |
| ENST00000261643.7:c.413_414del | ENSP00000261643.3:p.Lys138ArgfsTer14 | |
| ENST00000429152.6:c.413_414del | ENSP00000397750.2:p.Lys138ArgfsTer14 | |
| ENST00000580561.1:c.177+2514_177+2515del | ENSP00000462190.1:n.177+2514_177+2515del | |
| ENST00000581931.5:c.413_414del | ENSP00000462512.1:p.Lys138ArgfsTer14 | |
| NM_001303.3:c.413_414del | NP_001294.2:p.Lys138ArgfsTer14 | |
| XM_005256458.1:c.413_414del | XP_005256515.1:p.Lys138ArgfsTer14 | |
| XM_011523657.1:c.413_414del | XP_011521959.1:p.Lys138ArgfsTer14 | |
| XM_011523658.1:c.-39_-38del | XP_011521960.1:n.-39_-38del | |
| XR_933974.1:n.516_517del | ||
| XR_933975.1:n.516_517del | ||
| NM_001303.4:c.413_414del MANE Select | NP_001294.2:p.Lys138ArgfsTer14 |