Linked Data
ClinVar Variation Id:
1452353
ClinVar RCV Id:
RCV001994528
dbSNP Id:
rs745432667
ExAC:
15:75188531 CT / C
gnomAD v2:
15-75188531-CT-C
gnomAD v3:
15-74896190-CT-C
gnomAD v4:
15-74896190-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74896194del , CM000677.2:g.74896194del | GRCh38 |
| NC_000015.9:g.75188535del , CM000677.1:g.75188535del | GRCh37 |
| NC_000015.8:g.72975588del | NCBI36 |
| NG_008921.1:g.11126del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352410.9:c.713del MANE Select | ENSP00000318318.6:p.Leu238CysfsTer20 | |
| ENST00000323744.10:c.530del | ENSP00000318192.6:p.Leu177CysfsTer20 | |
| ENST00000352410.8:c.713del | ENSP00000318318.6:p.Leu238CysfsTer20 | |
| ENST00000535694.5:c.563del | ENSP00000440447.1:p.Leu188CysfsTer20 | |
| ENST00000562606.5:c.653del | ENSP00000457020.1:p.Leu218CysfsTer20 | |
| ENST00000562800.5:c.256-1345del | ENSP00000457619.1:n.256-1345del | |
| ENST00000563422.5:c.713del | ENSP00000457885.1:p.Leu238CysfsTer20 | |
| ENST00000563786.5:c.653del | ENSP00000455241.1:p.Leu218CysfsTer20 | |
| ENST00000564003.5:c.380del | ENSP00000454312.1:p.Leu127CysfsTer20 | |
| ENST00000566377.5:c.713del | ENSP00000455405.1:p.Leu238CysfsTer20 | |
| ENST00000566556.1:n.761del | ||
| ENST00000567177.1:c.491del | ENSP00000457013.1:p.Leu164CysfsTer20 | |
| ENST00000569931.5:c.653del | ENSP00000455161.1:p.Leu218CysfsTer20 | |
| NM_001289155.1:c.713del | NP_001276084.1:p.Leu238CysfsTer20 | |
| NM_001289156.1:c.563del | NP_001276085.1:p.Leu188CysfsTer20 | |
| NM_001289157.1:c.530del | NP_001276086.1:p.Leu177CysfsTer20 | |
| NM_002435.2:c.713del | NP_002426.1:p.Leu238CysfsTer20 | |
| XM_011521592.1:c.701del | XP_011519894.1:p.Leu234CysfsTer20 | |
| XM_011521593.1:c.653del | XP_011519895.1:p.Leu218CysfsTer20 | |
| NM_001330372.1:c.653del | NP_001317301.1:p.Leu218CysfsTer20 | |
| XM_017022208.1:c.653del | XP_016877697.1:p.Leu218CysfsTer20 | |
| XM_017022209.2:c.563del | XP_016877698.1:p.Leu188CysfsTer20 | |
| NM_002435.3:c.713del MANE Select | NP_002426.1:p.Leu238CysfsTer20 | |
| NM_001289155.2:c.713del | NP_001276084.1:p.Leu238CysfsTer20 | |
| NM_001289156.2:c.563del | NP_001276085.1:p.Leu188CysfsTer20 | |
| NM_001289157.2:c.530del | NP_001276086.1:p.Leu177CysfsTer20 | |
| NM_001330372.2:c.653del | NP_001317301.1:p.Leu218CysfsTer20 |