Canonical Allele Identifier: CA833583227
Gene:

Linked Data

dbSNP Id: rs1393569594

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.13400451del , CM000669.2:g.13400451del GRCh38
NC_000007.13:g.13440076del , CM000669.1:g.13440076del GRCh37
NC_000007.12:g.13406601del NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001745097.1:n.147+90128del