Canonical Allele Identifier: CA2808381678
Gene: GUCY2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015610_8015613del , CM000679.2:g.8015610_8015613del GRCh38
NC_000017.10:g.7918928_7918931del , CM000679.1:g.7918928_7918931del GRCh37
NC_000017.9:g.7859653_7859656del NCBI36
NG_009092.1:g.17941_17944del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2944+108_2944+111del MANE Select ENSP00000254854.4:n.2944+108_2944+111del
ENST00000254854.4:c.2944+108_2944+111del ENSP00000254854.4:n.2944+108_2944+111del
NM_000180.3:c.2944+108_2944+111del NP_000171.1:n.2944+108_2944+111del
XM_011523816.1:c.2944+108_2944+111del XP_011522118.1:n.2944+108_2944+111del
NM_000180.4:c.2944+108_2944+111del MANE Select NP_000171.1:n.2944+108_2944+111del