Linked Data
ClinVar Variation Id:
218974
ClinVar RCV Id:
RCV000203380
dbSNP Id:
rs864309728
gnomAD v4:
4-145642425-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.145642426del , CM000666.2:g.145642426del | GRCh38 |
| NC_000004.11:g.146563578del , CM000666.1:g.146563578del | GRCh37 |
| NC_000004.10:g.146783028del | NCBI36 |
| NG_007536.1:g.28129del | |
| NG_007536.2:g.48385del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000541599.5:c.503del | ENSP00000442284.3:p.Thr168MetfsTer10 | |
| ENST00000647947.1:c.*287del | ENSP00000496781.1:n.*287del | |
| ENST00000648388.1:c.503del | ENSP00000497046.1:p.Thr168MetfsTer10 | |
| ENST00000649156.2:c.503del MANE Select | ENSP00000497008.1:p.Thr168MetfsTer10 | |
| ENST00000649173.1:c.503del | ENSP00000497871.1:p.Thr168MetfsTer10 | |
| ENST00000649704.1:c.503del | ENSP00000497680.1:p.Thr168MetfsTer10 | |
| ENST00000679563.1:c.503del | ENSP00000506503.1:p.Thr168MetfsTer10 | |
| ENST00000679930.1:c.*22del | ENSP00000506293.1:n.*22del | |
| ENST00000281317.9:c.503del | ENSP00000281317.5:p.Thr168MetfsTer10 | |
| ENST00000506919.1:n.991del | ||
| ENST00000511969.4:c.503del | ENSP00000427422.1:p.Thr168MetfsTer10 | |
| ENST00000541599.4:c.503del | ENSP00000442284.2:p.Thr168MetfsTer10 | |
| NM_172250.2:c.503del | NP_758454.1:p.Thr168MetfsTer10 | |
| XM_011531684.1:c.503del | XP_011529986.1:p.Thr168MetfsTer10 | |
| XM_011531685.1:c.503del | XP_011529987.1:p.Thr168MetfsTer10 | |
| XM_011531686.1:c.8del | XP_011529988.1:p.Thr3MetfsTer10 | |
| NM_172250.3:c.503del MANE Select | NP_758454.1:p.Thr168MetfsTer10 | |
| XM_011531684.3:c.503del | XP_011529986.1:p.Thr168MetfsTer10 | |
| XM_011531685.2:c.503del | XP_011529987.1:p.Thr168MetfsTer10 | |
| XM_011531686.2:c.8del | XP_011529988.1:p.Thr3MetfsTer10 | |
| NM_001375644.1:c.503del | NP_001362573.1:p.Thr168MetfsTer10 |