Linked Data
ClinVar Variation Id:
204247
ClinVar RCV Id:
RCV000186454
dbSNP Id:
rs796052081
gnomAD v4:
9-37426533-CGTA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37426536_37426538del , CM000671.2:g.37426536_37426538del | GRCh38 |
| NC_000009.11:g.37426533_37426535del , CM000671.1:g.37426533_37426535del | GRCh37 |
| NC_000009.10:g.37416533_37416535del | NCBI36 |
| NG_008135.1:g.8827_8829del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318158.11:c.288-2_288del | ||
| ENST00000318158.10:c.288-2_288del | ||
| ENST00000377824.8:n.325-2_325del | ||
| ENST00000460882.5:n.315-2_315del | ||
| ENST00000487399.5:n.838_840del | ||
| ENST00000491488.5:n.110-1948_110-1946del | ||
| ENST00000493368.5:n.345-2_345del | ||
| ENST00000607784.1:c.288-2_288del | ||
| NM_012203.1:c.288-2_288del | ||
| XM_005251631.1:c.84-1948_84-1946del | XP_005251688.1:n.84-1948_84-1946del | |
| XM_011518073.1:c.-475-2_-475del | ||
| XR_929374.1:n.373-2_373del | ||
| XM_017015320.2:c.288-2_288del | ||
| XM_017015321.2:c.288-2_288del | ||
| XM_017015323.2:c.-475-2_-475del | ||
| XM_024447716.1:c.561-2_561del | ||
| XM_024447717.1:c.561-2_561del | ||
| XR_002956828.1:n.576-2_576del | ||
| XR_002956829.1:n.576-2_576del | ||
| XR_002956830.1:n.347-2_347del | ||
| XR_002956831.1:n.139-1948_139-1946del | ||
| XR_002956832.1:n.347-2_347del | ||
| NM_012203.2:c.288-2_288del |