Canonical Allele Identifier: CA2246113403

Gene: GUCY2D

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8012137_8012138delinsCT , CM000679.2:g.8012137_8012138delinsCT	GRCh38
NC_000017.10:g.7915455_7915456delinsCT , CM000679.1:g.7915455_7915456delinsCT	GRCh37
NC_000017.9:g.7856180_7856181delinsCT	NCBI36
NG_009092.1:g.14468_14469delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254854.5:c.1750-7_1750-6delinsCT MANE Select	ENSP00000254854.4:n.1750-7_1750-6delinsCT
ENST00000254854.4:c.1750-7_1750-6delinsCT	ENSP00000254854.4:n.1750-7_1750-6delinsCT
NM_000180.3:c.1750-7_1750-6delinsCT	NP_000171.1:n.1750-7_1750-6delinsCT
XM_011523816.1:c.1750-7_1750-6delinsCT	XP_011522118.1:n.1750-7_1750-6delinsCT
NM_000180.4:c.1750-7_1750-6delinsCT MANE Select	NP_000171.1:n.1750-7_1750-6delinsCT