Canonical Allele Identifier: CA2635949707
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 2942094
ClinVar RCV Id: RCV003805308
gnomAD v4: 17-8012173-CCTCT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012174_8012177del , CM000679.2:g.8012174_8012177del GRCh38
NC_000017.10:g.7915492_7915495del , CM000679.1:g.7915492_7915495del GRCh37
NC_000017.9:g.7856217_7856220del NCBI36
NG_009092.1:g.14505_14508del

Transcript Alleles

HGVS Amino-acid change
ENST00000254854.5:c.1780_1783del MANE Select ENSP00000254854.4:p.Leu594ThrfsTer?
ENST00000254854.4:c.1780_1783del ENSP00000254854.4:p.Leu594ThrfsTer?
NM_000180.3:c.1780_1783del NP_000171.1:p.Leu594ThrfsTer?
XM_011523816.1:c.1780_1783del XP_011522118.1:p.Leu594ThrfsTer?
NM_000180.4:c.1780_1783del MANE Select NP_000171.1:p.Leu594ThrfsTer?
Search 100 bp 5'
Search 100 bp 3'