Canonical Allele Identifier: CA2808393071
Gene: GUCY2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012639_8012718del , CM000679.2:g.8012639_8012718del GRCh38
NC_000017.10:g.7915957_7916036del , CM000679.1:g.7915957_7916036del GRCh37
NC_000017.9:g.7856682_7856761del NCBI36
NG_009092.1:g.14970_15049del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2113+33_2113+112del MANE Select ENSP00000254854.4:n.2113+33_2113+112del
ENST00000254854.4:c.2113+33_2113+112del ENSP00000254854.4:n.2113+33_2113+112del
NM_000180.3:c.2113+33_2113+112del NP_000171.1:n.2113+33_2113+112del
XM_011523816.1:c.2113+33_2113+112del XP_011522118.1:n.2113+33_2113+112del
NM_000180.4:c.2113+33_2113+112del MANE Select NP_000171.1:n.2113+33_2113+112del