Canonical Allele Identifier: CA2808393024
Gene: GUCY2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012378_8012381del , CM000679.2:g.8012378_8012381del GRCh38
NC_000017.10:g.7915696_7915699del , CM000679.1:g.7915696_7915699del GRCh37
NC_000017.9:g.7856421_7856424del NCBI36
NG_009092.1:g.14709_14712del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.1956+28_1956+31del MANE Select ENSP00000254854.4:n.1956+28_1956+31del
ENST00000254854.4:c.1956+28_1956+31del ENSP00000254854.4:n.1956+28_1956+31del
NM_000180.3:c.1956+28_1956+31del NP_000171.1:n.1956+28_1956+31del
XM_011523816.1:c.1956+28_1956+31del XP_011522118.1:n.1956+28_1956+31del
NM_000180.4:c.1956+28_1956+31del MANE Select NP_000171.1:n.1956+28_1956+31del