Canonical Allele Identifier: CA2576160304
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 2942687
ClinVar RCV Id: RCV003807853
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012132_8012146del , CM000679.2:g.8012132_8012146del GRCh38
NC_000017.10:g.7915450_7915464del , CM000679.1:g.7915450_7915464del GRCh37
NC_000017.9:g.7856175_7856189del NCBI36
NG_009092.1:g.14463_14477del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.1750-12_1752del
ENST00000254854.4:c.1750-12_1752del
NM_000180.3:c.1750-12_1752del
XM_011523816.1:c.1750-12_1752del
NM_000180.4:c.1750-12_1752del
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