Canonical Allele Identifier: CA584791055

Gene:

Linked Data

• dbSNP Id: rs1344779529
• gnomAD v2: 8-123408345-A-AAAAC
• gnomAD v3: 8-122396106-A-AAAAC
• gnomAD v4: 8-122396106-A-AAAAC
• MyVariant Identifiers: chr8:g.123408345_123408346insAAAC (hg19) ; chr8:g.122396106_122396107insAAAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.122396109_122396110insCAAA , CM000670.2:g.122396109_122396110insCAAA	GRCh38
NC_000008.10:g.123408348_123408349insCAAA , CM000670.1:g.123408348_123408349insCAAA	GRCh37
NC_000008.9:g.123477529_123477530insCAAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928599.1:n.152+3065_152+3066insGTTT
XR_928599.3:n.152+3065_152+3066insGTTT