Canonical Allele Identifier: CA1689218103
Gene:

Linked Data

dbSNP Id: rs1783118536

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.13400589_13400591del , CM000669.2:g.13400589_13400591del GRCh38
NC_000007.13:g.13440214_13440216del , CM000669.1:g.13440214_13440216del GRCh37
NC_000007.12:g.13406739_13406741del NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001745097.1:n.147+90266_147+90268del