Canonical Allele Identifier: CA1500737485

Gene:

Linked Data

• dbSNP Id: rs1733819586

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.144559214_144559215insGTT , CM000666.2:g.144559214_144559215insGTT	GRCh38
NC_000004.11:g.145480366_145480367insGTT , CM000666.1:g.145480366_145480367insGTT	GRCh37
NC_000004.10:g.145699816_145699817insGTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649263.1:c.328-143237_328-143236insAAC	ENSP00000497507.1:n.328-143237_328-143236insAAC
XR_939272.1:n.178+2769_178+2770insAAC
XR_939273.1:n.178+2769_178+2770insAAC
XR_939272.2:n.522+2769_522+2770insAAC
XR_939273.2:n.522+2769_522+2770insAAC