Canonical Allele Identifier: CA2246114654
Gene: GUCY2D HGNC NCBI

Linked Data

dbSNP Id: rs1975878135

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012627_8012629del , CM000679.2:g.8012627_8012629del GRCh38
NC_000017.10:g.7915945_7915947del , CM000679.1:g.7915945_7915947del GRCh37
NC_000017.9:g.7856670_7856672del NCBI36
NG_009092.1:g.14958_14960del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2113+21_2113+23del MANE Select ENSP00000254854.4:n.2113+21_2113+23del
ENST00000254854.4:c.2113+21_2113+23del ENSP00000254854.4:n.2113+21_2113+23del
NM_000180.3:c.2113+21_2113+23del NP_000171.1:n.2113+21_2113+23del
XM_011523816.1:c.2113+21_2113+23del XP_011522118.1:n.2113+21_2113+23del
NM_000180.4:c.2113+21_2113+23del MANE Select NP_000171.1:n.2113+21_2113+23del