Linked Data
ClinVar Variation Id:
1424664
ClinVar RCV Id:
RCV001923938
dbSNP Id:
rs2149722710
gnomAD v4:
5-90712399-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90712400del , CM000667.2:g.90712400del | GRCh38 |
| NC_000005.9:g.90008217del , CM000667.1:g.90008217del | GRCh37 |
| NC_000005.8:g.90043973del | NCBI36 |
| NG_007083.1:g.158601del | |
| NG_007083.2:g.188057del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.9156del MANE Select | ENSP00000384582.2:p.Gly3053AspfsTer2 | |
| ENST00000639431.1:c.265+36191del | ENSP00000491057.1:n.265+36191del | |
| ENST00000639473.1:n.4615del | ||
| ENST00000640012.1:c.2963del | ||
| ENST00000640374.1:n.2300del | ||
| ENST00000640779.1:c.3885del | ||
| ENST00000405460.6:c.9156del | ENSP00000384582.2:p.Gly3053AspfsTer2 | |
| ENST00000509621.1:c.1853del | ||
| NM_032119.3:c.9156del | NP_115495.3:p.Gly3053AspfsTer2 | |
| NR_003149.1:n.9169del | ||
| XM_011543675.1:c.9153del | XP_011541977.1:p.Gly3052AspfsTer2 | |
| XM_011543676.1:c.9075del | XP_011541978.1:p.Gly3026AspfsTer2 | |
| XM_011543677.1:c.6459del | XP_011541979.1:p.Gly2154AspfsTer2 | |
| XM_011543678.1:c.9156del | XP_011541980.1:p.Gly3053AspfsTer2 | |
| XM_011543679.1:c.9156del | XP_011541981.1:p.Gly3053AspfsTer2 | |
| XR_948560.1:n.446del | ||
| NM_032119.4:c.9156del MANE Select | NP_115495.3:p.Gly3053AspfsTer2 | |
| XM_017009963.2:c.9177del | XP_016865452.1:p.Gly3060AspfsTer2 | |
| XM_017009964.2:c.9174del | XP_016865453.1:p.Gly3059AspfsTer2 | |
| XM_017009965.1:c.9174del | XP_016865454.1:p.Gly3059AspfsTer2 | |
| XM_017009966.2:c.9096del | XP_016865455.1:p.Gly3033AspfsTer2 | |
| XM_017009967.1:c.9081del | XP_016865456.1:p.Gly3028AspfsTer2 | |
| XM_017009968.2:c.9177del | XP_016865457.1:p.Gly3060AspfsTer2 | |
| XM_017009969.2:c.9177del | XP_016865458.1:p.Gly3060AspfsTer2 | |
| XM_017009970.2:c.9177del | XP_016865459.1:p.Gly3060AspfsTer2 | |
| XM_017009971.2:c.9177del | XP_016865460.1:p.Gly3060AspfsTer2 | |
| XM_017009972.1:c.2295del | XP_016865461.1:p.Gly766AspfsTer2 | |
| XM_017009973.1:c.2274del | XP_016865462.1:p.Gly759AspfsTer2 | |
| XM_017009974.2:c.9177del | XP_016865463.1:p.Gly3060AspfsTer2 | |
| NR_003149.2:n.9172del |