Canonical Allele Identifier: CA2488842756

Gene:

Linked Data

• dbSNP Id: rs1661028585
• gnomAD v3: 2-11117428-CA-C
• gnomAD v4: 2-11117428-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.11117430del , CM000664.2:g.11117430del	GRCh38
NC_000002.11:g.11257556del , CM000664.1:g.11257556del	GRCh37
NC_000002.10:g.11175007del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NR_040080.1:n.984+3334del