Canonical Allele Identifier: CA1069047646

Gene:

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.144559445_144559451del , CM000666.2:g.144559445_144559451del	GRCh38
NC_000004.11:g.145480597_145480603del , CM000666.1:g.145480597_145480603del	GRCh37
NC_000004.10:g.145700047_145700053del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649263.1:c.328-143473_328-143467del	ENSP00000497507.1:n.328-143473_328-143467del
XR_939272.1:n.178+2533_178+2539del
XR_939273.1:n.178+2533_178+2539del
XR_939272.2:n.522+2533_522+2539del
XR_939273.2:n.522+2533_522+2539del