Canonical Allele Identifier: CA2246113230

Gene: GUCY2D

Linked Data

• dbSNP Id: rs1975859482
• gnomAD v4: 17-8012011-TATC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8012013_8012015del , CM000679.2:g.8012013_8012015del	GRCh38
NC_000017.10:g.7915331_7915333del , CM000679.1:g.7915331_7915333del	GRCh37
NC_000017.9:g.7856056_7856058del	NCBI36
NG_009092.1:g.14344_14346del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254854.5:c.1750-131_1750-129del MANE Select	ENSP00000254854.4:n.1750-131_1750-129del
ENST00000254854.4:c.1750-131_1750-129del	ENSP00000254854.4:n.1750-131_1750-129del
NM_000180.3:c.1750-131_1750-129del	NP_000171.1:n.1750-131_1750-129del
XM_011523816.1:c.1750-131_1750-129del	XP_011522118.1:n.1750-131_1750-129del
NM_000180.4:c.1750-131_1750-129del MANE Select	NP_000171.1:n.1750-131_1750-129del