Canonical Allele Identifier: CA2246121266

Gene: GUCY2D

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8015871_8015884delinsTGGGAGGGGGACAC , CM000679.2:g.8015871_8015884delinsTGGGAGGGGGACAC	GRCh38
NC_000017.10:g.7919189_7919202delinsTGGGAGGGGGACAC , CM000679.1:g.7919189_7919202delinsTGGGAGGGGGACAC	GRCh37
NC_000017.9:g.7859914_7859927delinsTGGGAGGGGGACAC	NCBI36
NG_009092.1:g.18202_18215delinsTGGGAGGGGGACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254854.5:c.3043+30_3044-43delinsTGGGAGGGGGACAC MANE Select	ENSP00000254854.4:n.3043+30_3044-43delinsTGGGAGGGGGACAC
ENST00000254854.4:c.3043+30_3044-43delinsTGGGAGGGGGACAC	ENSP00000254854.4:n.3043+30_3044-43delinsTGGGAGGGGGACAC
NM_000180.3:c.3043+30_3044-43delinsTGGGAGGGGGACAC	NP_000171.1:n.3043+30_3044-43delinsTGGGAGGGGGACAC
XM_011523816.1:c.3043+30_3044-43delinsTGGGAGGGGGACAC	XP_011522118.1:n.3043+30_3044-43delinsTGGGAGGGGGACAC
NM_000180.4:c.3043+30_3044-43delinsTGGGAGGGGGACAC MANE Select	NP_000171.1:n.3043+30_3044-43delinsTGGGAGGGGGACAC