Canonical Allele Identifier: CA775516463
Gene: GUCY2D HGNC NCBI

Linked Data

dbSNP Id: rs1427002469
gnomAD v4: 17-8015699-AG-A
MyVariant Identifiers: chr17:g.7919018del (hg19) chr17:g.8015700del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015702del , CM000679.2:g.8015702del GRCh38
NC_000017.10:g.7919020del , CM000679.1:g.7919020del GRCh37
NC_000017.9:g.7859745del NCBI36
NG_009092.1:g.18033del

Transcript Alleles

HGVS Amino-acid change
ENST00000254854.5:c.2945-41del MANE Select ENSP00000254854.4:n.2945-41del
ENST00000254854.4:c.2945-41del ENSP00000254854.4:n.2945-41del
NM_000180.3:c.2945-41del NP_000171.1:n.2945-41del
XM_011523816.1:c.2945-41del XP_011522118.1:n.2945-41del
NM_000180.4:c.2945-41del MANE Select NP_000171.1:n.2945-41del
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