Canonical Allele Identifier: CA287534332

Gene: GUCY2D

Linked Data

• dbSNP Id: rs907939825
• gnomAD v4: 17-8015876-G-GGGGGACACGGGAGGTGAGTCCC
• MyVariant Identifiers: chr17:g.7919194_7919195insGGGGACACGGGAGGTGAGTCCC (hg19) ; chr17:g.8015876_8015877insGGGGACACGGGAGGTGAGTCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8015878_8015899dup , CM000679.2:g.8015878_8015899dup	GRCh38
NC_000017.10:g.7919196_7919217dup , CM000679.1:g.7919196_7919217dup	GRCh37
NC_000017.9:g.7859921_7859942dup	NCBI36
NG_009092.1:g.18209_18230dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254854.5:c.3043+37_3044-28dup MANE Select	ENSP00000254854.4:n.3043+37_3044-28dup
ENST00000254854.4:c.3043+37_3044-28dup	ENSP00000254854.4:n.3043+37_3044-28dup
NM_000180.3:c.3043+37_3044-28dup	NP_000171.1:n.3043+37_3044-28dup
XM_011523816.1:c.3043+37_3044-28dup	XP_011522118.1:n.3043+37_3044-28dup
NM_000180.4:c.3043+37_3044-28dup MANE Select	NP_000171.1:n.3043+37_3044-28dup