Linked Data
ClinVar Variation Id:
98247
ClinVar RCV Id:
RCV000084586
dbSNP Id:
rs63749988
gnomAD v4:
17-44351710-CCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44351711_44351712del , CM000679.2:g.44351711_44351712del | GRCh38 |
| NC_000017.10:g.42429079_42429080del , CM000679.1:g.42429079_42429080del | GRCh37 |
| NC_000017.9:g.39784605_39784606del | NCBI36 |
| NG_007886.1:g.11589_11590del , LRG_661:g.11589_11590del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000053867.8:c.1095_1096del MANE Select | ENSP00000053867.2:p.Cys366Ter | |
| ENST00000639447.1:c.1095_1096del | ENSP00000492014.1:p.Cys366Ter | |
| ENST00000053867.7:c.1095_1096del | ENSP00000053867.2:p.Cys366Ter | |
| ENST00000586443.1:c.536_537del | ||
| ENST00000589265.5:c.624_625del | ENSP00000467616.1:p.Cys209Ter | |
| ENST00000589923.1:n.353_354del | ||
| NM_002087.3:c.1095_1096del | NP_002078.1:p.Cys366Ter | |
| XM_005257253.1:c.1095_1096del | XP_005257310.1:p.Cys366Ter | |
| XM_024450730.1:c.1095_1096del | XP_024306498.1:p.Cys366Ter | |
| NM_002087.4:c.1095_1096del MANE Select | NP_002078.1:p.Cys366Ter |