Canonical Allele Identifier: CA1500737573

Gene:

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.144559293_144559298delinsGCTTCC , CM000666.2:g.144559293_144559298delinsGCTTCC	GRCh38
NC_000004.11:g.145480445_145480450delinsGCTTCC , CM000666.1:g.145480445_145480450delinsGCTTCC	GRCh37
NC_000004.10:g.145699895_145699900delinsGCTTCC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649263.1:c.328-143320_328-143315delinsGGAAGC	ENSP00000497507.1:n.328-143320_328-143315delinsGGAAGC
XR_939272.1:n.178+2686_178+2691delinsGGAAGC
XR_939273.1:n.178+2686_178+2691delinsGGAAGC
XR_939272.2:n.522+2686_522+2691delinsGGAAGC
XR_939273.2:n.522+2686_522+2691delinsGGAAGC