Linked Data
ClinVar Variation Id:
1113470
ClinVar RCV Id:
RCV001440863
dbSNP Id:
rs1035926713
gnomAD v3:
8-38145213-GC-G
gnomAD v4:
8-38145213-GC-G
MyVariant Identifiers:
chr8:g.38002732del (hg19)
chr8:g.38145215del (hg38)
chr8:g.38145214del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38145216del , CM000670.2:g.38145216del | GRCh38 |
| NC_000008.10:g.38002734del , CM000670.1:g.38002734del | GRCh37 |
| NC_000008.9:g.38121891del | NCBI36 |
| NG_011827.1:g.10869del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000276449.9:c.744+8del MANE Select | ENSP00000276449.3:n.744+8del | |
| ENST00000276449.8:c.744+8del | ENSP00000276449.3:n.744+8del | |
| ENST00000520114.1:n.1886del | ||
| ENST00000522050.1:c.586+749del | ||
| NM_000349.2:c.744+8del | NP_000340.2:n.744+8del | |
| XM_006716392.1:c.650+749del | XP_006716455.1:n.650+749del | |
| NM_000349.3:c.744+8del MANE Select | NP_000340.2:n.744+8del |