Linked Data
ClinVar Variation Id:
9136
dbSNP Id:
rs397515377
ExAC:
8:63973903 CT / C
gnomAD v2:
8-63973903-CT-C
gnomAD v4:
8-63061344-CT-C
MyVariant Identifiers:
chr8:g.63973904del (hg19)
chr8:g.63061346del (hg38)
chr8:g.63061345del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.63061346del , CM000670.2:g.63061346del | GRCh38 |
| NC_000008.10:g.63973905del , CM000670.1:g.63973905del | GRCh37 |
| NC_000008.9:g.64136459del | NCBI36 |
| NG_016123.1:g.29709del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260116.5:c.744del MANE Select | ENSP00000260116.4:p.Glu249AsnfsTer15 | |
| ENST00000260116.4:c.744del | ENSP00000260116.4:p.Glu249AsnfsTer15 | |
| ENST00000521138.1:n.233-12742del | ||
| NM_000370.3:c.744del MANE Select | NP_000361.1:p.Glu249AsnfsTer15 | |
| XM_006716468.2:c.396del | XP_006716531.1:p.Glu133AsnfsTer15 | |
| XM_006716468.4:c.396del | XP_006716531.1:p.Glu133AsnfsTer15 |