Canonical Allele Identifier: CA934286438
Gene:

Linked Data

dbSNP Id: rs1862670127
gnomAD v3: 11-746998-GC-G
gnomAD v4: 11-746998-GC-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.747000del , CM000673.2:g.747000del GRCh38
NC_000011.9:g.747000del , CM000673.1:g.747000del GRCh37
NC_000011.8:g.737000del NCBI36
NG_008160.1:g.4569del

Transcript Alleles

HGVS Amino-acid change
XR_930963.1:n.259+151del