Canonical Allele Identifier: CA2635953847

Gene: GUCY2D

Linked Data

• gnomAD v4: 17-8015339-A-AGG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8015342_8015343dup , CM000679.2:g.8015342_8015343dup	GRCh38
NC_000017.10:g.7918660_7918661dup , CM000679.1:g.7918660_7918661dup	GRCh37
NC_000017.9:g.7859385_7859386dup	NCBI36
NG_009092.1:g.17673_17674dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254854.5:c.2784_2785dup MANE Select	ENSP00000254854.4:p.Asp929GlyfsTer?
ENST00000254854.4:c.2784_2785dup	ENSP00000254854.4:p.Asp929GlyfsTer?
NM_000180.3:c.2784_2785dup	NP_000171.1:p.Asp929GlyfsTer?
XM_011523816.1:c.2784_2785dup	XP_011522118.1:p.Asp929GlyfsTer?
NM_000180.4:c.2784_2785dup MANE Select	NP_000171.1:p.Asp929GlyfsTer?