Canonical Allele Identifier: CA2635949704
Gene: GUCY2D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012147del , CM000679.2:g.8012147del GRCh38
NC_000017.10:g.7915465del , CM000679.1:g.7915465del GRCh37
NC_000017.9:g.7856190del NCBI36
NG_009092.1:g.14478del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.1753del MANE Select ENSP00000254854.4:p.Gln585ArgfsTer?
ENST00000254854.4:c.1753del ENSP00000254854.4:p.Gln585ArgfsTer?
NM_000180.3:c.1753del NP_000171.1:p.Gln585ArgfsTer?
XM_011523816.1:c.1753del XP_011522118.1:p.Gln585ArgfsTer?
NM_000180.4:c.1753del MANE Select NP_000171.1:p.Gln585ArgfsTer?