Canonical Allele Identifier: CA226143
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 98602
dbSNP Id: rs61749670

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8003436del , CM000679.2:g.8003436del GRCh38
NC_000017.10:g.7906754del , CM000679.1:g.7906754del GRCh37
NC_000017.9:g.7847479del NCBI36
NG_009092.1:g.5767del

Transcript Alleles

HGVS Amino-acid change
ENST00000254854.5:c.389del MANE Select ENSP00000254854.4:p.Pro130LeufsTer?
ENST00000254854.4:c.389del ENSP00000254854.4:p.Pro130LeufsTer?
NM_000180.3:c.389del NP_000171.1:p.Pro130LeufsTer?
XM_011523816.1:c.389del XP_011522118.1:p.Pro130LeufsTer?
NM_000180.4:c.389del MANE Select NP_000171.1:p.Pro130LeufsTer?