Canonical Allele Identifier: CA2246114509
Gene: GUCY2D HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012566_8012574delinsGGAAGCACA , CM000679.2:g.8012566_8012574delinsGGAAGCACA GRCh38
NC_000017.10:g.7915884_7915892delinsGGAAGCACA , CM000679.1:g.7915884_7915892delinsGGAAGCACA GRCh37
NC_000017.9:g.7856609_7856617delinsGGAAGCACA NCBI36
NG_009092.1:g.14897_14905delinsGGAAGCACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2073_2081delinsGGAAGCACA MANE Select ENSP00000254854.4:p.Leu691=
ENST00000254854.4:c.2073_2081delinsGGAAGCACA ENSP00000254854.4:p.Leu691=
NM_000180.3:c.2073_2081delinsGGAAGCACA NP_000171.1:p.Leu691=
XM_011523816.1:c.2073_2081delinsGGAAGCACA XP_011522118.1:p.Leu691=
NM_000180.4:c.2073_2081delinsGGAAGCACA MANE Select NP_000171.1:p.Leu691=
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