Canonical Allele Identifier: CA624867833
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 1878597
ClinVar RCV Id: RCV002510688
gnomAD v2: 17-7906930-G-GC
gnomAD v4: 17-8003612-G-GC
MyVariant Identifiers: chr17:g.7906931_7906932insC (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8003618dup , CM000679.2:g.8003618dup GRCh38
NC_000017.10:g.7906936dup , CM000679.1:g.7906936dup GRCh37
NC_000017.9:g.7847661dup NCBI36
NG_009092.1:g.5949dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.571dup MANE Select ENSP00000254854.4:p.Gln191ProfsTer?
ENST00000254854.4:c.571dup ENSP00000254854.4:p.Gln191ProfsTer?
NM_000180.3:c.571dup NP_000171.1:p.Gln191ProfsTer?
XM_011523816.1:c.571dup XP_011522118.1:p.Gln191ProfsTer?
NM_000180.4:c.571dup MANE Select NP_000171.1:p.Gln191ProfsTer?
Search 100 bp 5'
Search 100 bp 3'