Canonical Allele Identifier: CA8366273

Gene: GUCY2D

Linked Data

• ClinVar Variation Id: 1023420
• ClinVar RCV Id: RCV001323456
• dbSNP Id: rs754170656
• ExAC: 17:7919051 ATC / A
• gnomAD v2: 17-7919051-ATC-A
• gnomAD v3: 17-8015733-ATC-A
• gnomAD v4: 17-8015733-ATC-A
• MyVariant Identifiers: chr17:g.7919052_7919053del (hg19) ; chr17:g.8015734_8015735del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8015736_8015737del , CM000679.2:g.8015736_8015737del	GRCh38
NC_000017.10:g.7919054_7919055del , CM000679.1:g.7919054_7919055del	GRCh37
NC_000017.9:g.7859779_7859780del	NCBI36
NG_009092.1:g.18067_18068del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254854.5:c.2945-7_2945-6del MANE Select	ENSP00000254854.4:n.2945-7_2945-6del
ENST00000254854.4:c.2945-7_2945-6del	ENSP00000254854.4:n.2945-7_2945-6del
NM_000180.3:c.2945-7_2945-6del	NP_000171.1:n.2945-7_2945-6del
XM_011523816.1:c.2945-7_2945-6del	XP_011522118.1:n.2945-7_2945-6del
NM_000180.4:c.2945-7_2945-6del MANE Select	NP_000171.1:n.2945-7_2945-6del