Canonical Allele Identifier: CA226147
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 98605
ClinVar RCV Id: RCV000084900 RCV001250819
dbSNP Id: rs63749076
MyVariant Identifiers: chr17:g.7906417_7906464dup48 (hg19) chr17:g.8003099_8003146dup48 (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8003099_8003146dup , CM000679.2:g.8003099_8003146dup GRCh38
NC_000017.10:g.7906417_7906464dup , CM000679.1:g.7906417_7906464dup GRCh37
NC_000017.9:g.7847142_7847189dup NCBI36
NG_009092.1:g.5430_5477dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.52_99dup MANE Select ENSP00000254854.4:p.Leu33_Pro34insGlyProAlaTrpTrpAlaProSerLeu...
ENST00000254854.4:c.52_99dup ENSP00000254854.4:p.Leu33_Pro34insGlyProAlaTrpTrpAlaProSerLeu...
NM_000180.3:c.52_99dup NP_000171.1:p.Leu33_Pro34insGlyProAlaTrpTrpAlaProSerLeuProArg...
XM_011523816.1:c.52_99dup XP_011522118.1:p.Leu33_Pro34insGlyProAlaTrpTrpAlaProSerLeuPro...
NM_000180.4:c.52_99dup MANE Select NP_000171.1:p.Leu33_Pro34insGlyProAlaTrpTrpAlaProSerLeuProArg...
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Search 100 bp 3'