Canonical Allele Identifier: CA226065
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 98556
ClinVar RCV Id: RCV000084849
dbSNP Id: rs61750163
MyVariant Identifiers: chr17:g.7915889_7915896del (hg19) chr17:g.8012571_8012578del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012571_8012578del , CM000679.2:g.8012571_8012578del GRCh38
NC_000017.10:g.7915889_7915896del , CM000679.1:g.7915889_7915896del GRCh37
NC_000017.9:g.7856614_7856621del NCBI36
NG_009092.1:g.14902_14909del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2078_2085del MANE Select ENSP00000254854.4:p.Ala693GlyfsTer20
ENST00000254854.4:c.2078_2085del ENSP00000254854.4:p.Ala693GlyfsTer20
NM_000180.3:c.2078_2085del NP_000171.1:p.Ala693GlyfsTer20
XM_011523816.1:c.2078_2085del XP_011522118.1:p.Ala693GlyfsTer20
NM_000180.4:c.2078_2085del MANE Select NP_000171.1:p.Ala693GlyfsTer20
Search 100 bp 5'
Search 100 bp 3'