Linked Data
ClinVar Variation Id:
99576
ClinVar RCV Id:
RCV000085965
dbSNP Id:
rs61754366
ExAC:
11:88911798 CAGG / C
gnomAD v2:
11-88911798-CAGG-C
gnomAD v4:
11-89178630-CAGG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89178633_89178635del , CM000673.2:g.89178633_89178635del | GRCh38 |
| NC_000011.9:g.88911801_88911803del , CM000673.1:g.88911801_88911803del | GRCh37 |
| NC_000011.8:g.88551449_88551451del | NCBI36 |
| NG_008748.1:g.5762_5764del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263321.6:c.680_682del MANE Select | ENSP00000263321.4:p.Gly227del | |
| ENST00000263321.5:c.680_682del | ENSP00000263321.4:p.Gly227del | |
| ENST00000526139.1:n.741_743del | ||
| NM_000372.4:c.680_682del | NP_000363.1:p.Gly227del | |
| XM_011542970.1:c.680_682del | XP_011541272.1:p.Gly227del | |
| XM_011542970.2:c.680_682del | XP_011541272.1:p.Gly227del | |
| XR_001748321.1:n.2718-65100_2718-65098del | ||
| XR_001748322.1:n.2733-65100_2733-65098del | ||
| NM_000372.5:c.680_682del MANE Select | NP_000363.1:p.Gly227del |