Canonical Allele Identifier: CA1139664116
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 974653
ClinVar RCV Id: RCV001250852 RCV003770304
dbSNP Id: rs1975957618
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015795del , CM000679.2:g.8015795del GRCh38
NC_000017.10:g.7919113del , CM000679.1:g.7919113del GRCh37
NC_000017.9:g.7859838del NCBI36
NG_009092.1:g.18126del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2997del MANE Select ENSP00000254854.4:p.Phe999LeufsTer22
ENST00000254854.4:c.2997del ENSP00000254854.4:p.Phe999LeufsTer22
NM_000180.3:c.2997del NP_000171.1:p.Phe999LeufsTer22
XM_011523816.1:c.2997del XP_011522118.1:p.Phe999LeufsTer22
NM_000180.4:c.2997del MANE Select NP_000171.1:p.Phe999LeufsTer22
Search 100 bp 5'
Search 100 bp 3'