Canonical Allele Identifier: CA2808381654
Gene: GUCY2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015532_8015732del , CM000679.2:g.8015532_8015732del GRCh38
NC_000017.10:g.7918850_7919050del , CM000679.1:g.7918850_7919050del GRCh37
NC_000017.9:g.7859575_7859775del NCBI36
NG_009092.1:g.17863_18063del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2944+30_2945-11del MANE Select ENSP00000254854.4:n.2944+30_2945-11del
ENST00000254854.4:c.2944+30_2945-11del ENSP00000254854.4:n.2944+30_2945-11del
NM_000180.3:c.2944+30_2945-11del NP_000171.1:n.2944+30_2945-11del
XM_011523816.1:c.2944+30_2945-11del XP_011522118.1:n.2944+30_2945-11del
NM_000180.4:c.2944+30_2945-11del MANE Select NP_000171.1:n.2944+30_2945-11del