Canonical Allele Identifier: CA1500737816

Gene:

Linked Data

• dbSNP Id: rs1733827159

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.144559531_144559544dup , CM000666.2:g.144559531_144559544dup	GRCh38
NC_000004.11:g.145480683_145480696dup , CM000666.1:g.145480683_145480696dup	GRCh37
NC_000004.10:g.145700133_145700146dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649263.1:c.328-143561_328-143548dup	ENSP00000497507.1:n.328-143561_328-143548dup
XR_939272.1:n.178+2445_178+2458dup
XR_939273.1:n.178+2445_178+2458dup
XR_939272.2:n.522+2445_522+2458dup
XR_939273.2:n.522+2445_522+2458dup