Canonical Allele Identifier: CA2687741460

Gene:

Linked Data

• gnomAD v4: 8-81478406-AGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.81478407_81478408del , CM000670.2:g.81478407_81478408del	GRCh38
NC_000008.10:g.82390642_82390643del , CM000670.1:g.82390642_82390643del	GRCh37
NC_000008.9:g.82553197_82553198del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001745980.1:n.514+16433_514+16434del