Canonical Allele Identifier: CA8366284

Gene: GUCY2D

Linked Data

• dbSNP Id: rs757720386
• ExAC: 17:7919165 T / TGTGACGGGGAC
• gnomAD v2: 17-7919165-T-TGTGACGGGGAC
• gnomAD v3: 17-8015847-T-TGTGACGGGGAC
• gnomAD v4: 17-8015847-T-TGTGACGGGGAC
• MyVariant Identifiers: chr17:g.7919165_7919166insGTGACGGGGAC (hg19) ; chr17:g.8015847_8015848insGTGACGGGGAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8015848_8015858dup , CM000679.2:g.8015848_8015858dup	GRCh38
NC_000017.10:g.7919166_7919176dup , CM000679.1:g.7919166_7919176dup	GRCh37
NC_000017.9:g.7859891_7859901dup	NCBI36
NG_009092.1:g.18179_18189dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254854.5:c.3043+7_3043+17dup MANE Select	ENSP00000254854.4:n.3043+7_3043+17dup
ENST00000254854.4:c.3043+7_3043+17dup	ENSP00000254854.4:n.3043+7_3043+17dup
NM_000180.3:c.3043+7_3043+17dup	NP_000171.1:n.3043+7_3043+17dup
XM_011523816.1:c.3043+7_3043+17dup	XP_011522118.1:n.3043+7_3043+17dup
NM_000180.4:c.3043+7_3043+17dup MANE Select	NP_000171.1:n.3043+7_3043+17dup