Canonical Allele Identifier: CA624867989

Gene: GUCY2D

Linked Data

• ClinVar Variation Id: 2935520
• ClinVar RCV Id: RCV003793614
• dbSNP Id: rs1329177766
• gnomAD v2: 17-7918833-T-TCTTCCCAGGC
• gnomAD v4: 17-8015515-T-TCTTCCCAGGC
• MyVariant Identifiers: chr17:g.7918833_7918834insCTTCCCAGGC (hg19) ; chr17:g.8015515_8015516insCTTCCCAGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8015516_8015525dup , CM000679.2:g.8015516_8015525dup	GRCh38
NC_000017.10:g.7918834_7918843dup , CM000679.1:g.7918834_7918843dup	GRCh37
NC_000017.9:g.7859559_7859568dup	NCBI36
NG_009092.1:g.17847_17856dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254854.5:c.2944+14_2944+23dup MANE Select	ENSP00000254854.4:n.2944+14_2944+23dup
ENST00000254854.4:c.2944+14_2944+23dup	ENSP00000254854.4:n.2944+14_2944+23dup
NM_000180.3:c.2944+14_2944+23dup	NP_000171.1:n.2944+14_2944+23dup
XM_011523816.1:c.2944+14_2944+23dup	XP_011522118.1:n.2944+14_2944+23dup
NM_000180.4:c.2944+14_2944+23dup MANE Select	NP_000171.1:n.2944+14_2944+23dup