Canonical Allele Identifier: CA226056
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 98549
ClinVar RCV Id: RCV000084842 RCV001250832
dbSNP Id: rs63749078
MyVariant Identifiers: chr17:g.7915518_7915542del (hg19) chr17:g.8012200_8012224del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012200_8012224del , CM000679.2:g.8012200_8012224del GRCh38
NC_000017.10:g.7915518_7915542del , CM000679.1:g.7915518_7915542del GRCh37
NC_000017.9:g.7856243_7856267del NCBI36
NG_009092.1:g.14531_14555del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.1806_1830del MANE Select ENSP00000254854.4:p.Ala604ArgfsTer25
ENST00000254854.4:c.1806_1830del ENSP00000254854.4:p.Ala604ArgfsTer25
NM_000180.3:c.1806_1830del NP_000171.1:p.Ala604ArgfsTer25
XM_011523816.1:c.1806_1830del XP_011522118.1:p.Ala604ArgfsTer25
NM_000180.4:c.1806_1830del MANE Select NP_000171.1:p.Ala604ArgfsTer25
Search 100 bp 5'
Search 100 bp 3'