Canonical Allele Identifier: CA2576160314
Gene: GUCY2D HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012576_8012578del , CM000679.2:g.8012576_8012578del GRCh38
NC_000017.10:g.7915894_7915896del , CM000679.1:g.7915894_7915896del GRCh37
NC_000017.9:g.7856619_7856621del NCBI36
NG_009092.1:g.14907_14909del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2083_2085del MANE Select ENSP00000254854.4:p.Lys695del
ENST00000254854.4:c.2083_2085del ENSP00000254854.4:p.Lys695del
NM_000180.3:c.2083_2085del NP_000171.1:p.Lys695del
XM_011523816.1:c.2083_2085del XP_011522118.1:p.Lys695del
NM_000180.4:c.2083_2085del MANE Select NP_000171.1:p.Lys695del
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