Canonical Allele Identifier: CA2808381672
Gene: GUCY2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015602_8015604del , CM000679.2:g.8015602_8015604del GRCh38
NC_000017.10:g.7918920_7918922del , CM000679.1:g.7918920_7918922del GRCh37
NC_000017.9:g.7859645_7859647del NCBI36
NG_009092.1:g.17933_17935del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2944+100_2944+102del MANE Select ENSP00000254854.4:n.2944+100_2944+102del
ENST00000254854.4:c.2944+100_2944+102del ENSP00000254854.4:n.2944+100_2944+102del
NM_000180.3:c.2944+100_2944+102del NP_000171.1:n.2944+100_2944+102del
XM_011523816.1:c.2944+100_2944+102del XP_011522118.1:n.2944+100_2944+102del
NM_000180.4:c.2944+100_2944+102del MANE Select NP_000171.1:n.2944+100_2944+102del