Canonical Allele Identifier: CA2635949449
Gene: GUCY2D HGNC NCBI

Linked Data

gnomAD v4: 17-8012019-AT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012022del , CM000679.2:g.8012022del GRCh38
NC_000017.10:g.7915340del , CM000679.1:g.7915340del GRCh37
NC_000017.9:g.7856065del NCBI36
NG_009092.1:g.14353del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.1750-122del MANE Select ENSP00000254854.4:n.1750-122del
ENST00000254854.4:c.1750-122del ENSP00000254854.4:n.1750-122del
NM_000180.3:c.1750-122del NP_000171.1:n.1750-122del
XM_011523816.1:c.1750-122del XP_011522118.1:n.1750-122del
NM_000180.4:c.1750-122del MANE Select NP_000171.1:n.1750-122del
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