Canonical Allele Identifier: CA251244
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 198995
dbSNP Id: rs794727952

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012167del , CM000679.2:g.8012167del GRCh38
NC_000017.10:g.7915485del , CM000679.1:g.7915485del GRCh37
NC_000017.9:g.7856210del NCBI36
NG_009092.1:g.14498del

Transcript Alleles

HGVS Amino-acid change
ENST00000254854.5:c.1773del MANE Select ENSP00000254854.4:p.Asn591LysfsTer?
ENST00000254854.4:c.1773del ENSP00000254854.4:p.Asn591LysfsTer?
NM_000180.3:c.1773del NP_000171.1:p.Asn591LysfsTer?
XM_011523816.1:c.1773del XP_011522118.1:p.Asn591LysfsTer?
NM_000180.4:c.1773del MANE Select NP_000171.1:p.Asn591LysfsTer?