Canonical Allele Identifier: CA2651630785

Gene:

Linked Data

• gnomAD v4: 20-2471000-C-CCTG

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.2471000_2471001insCTG , CM000682.2:g.2471000_2471001insCTG	GRCh38
NC_000020.10:g.2451646_2451647insCTG , CM000682.1:g.2451646_2451647insCTG	GRCh37
NC_000020.9:g.2399646_2399647insCTG	NCBI36
NG_042057.1:g.4853_4854insCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461548.1:c.305-3243_305-3242insCAG	ENSP00000456213.1:n.305-3243_305-3242insCAG