Canonical Allele Identifier: CA2576160484

Gene: GUCY2D

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8015342_8015355del , CM000679.2:g.8015342_8015355del	GRCh38
NC_000017.10:g.7918660_7918673del , CM000679.1:g.7918660_7918673del	GRCh37
NC_000017.9:g.7859385_7859398del	NCBI36
NG_009092.1:g.17673_17686del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254854.5:c.2784_2797del MANE Select	ENSP00000254854.4:p.Asp929GlyfsTer?
ENST00000254854.4:c.2784_2797del	ENSP00000254854.4:p.Asp929GlyfsTer?
NM_000180.3:c.2784_2797del	NP_000171.1:p.Asp929GlyfsTer?
XM_011523816.1:c.2784_2797del	XP_011522118.1:p.Asp929GlyfsTer?
NM_000180.4:c.2784_2797del MANE Select	NP_000171.1:p.Asp929GlyfsTer?