Canonical Allele Identifier: CA2574631804
Gene: PDE6C HGNC NCBI

Linked Data

gnomAD v4: 10-93626670-AT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.93626674del , CM000672.2:g.93626674del GRCh38
NC_000010.10:g.95386431del , CM000672.1:g.95386431del GRCh37
NC_000010.9:g.95376421del NCBI36
NG_016752.1:g.19087del

Transcript Alleles

HGVS Amino-acid change
ENST00000371447.4:c.974del MANE Select ENSP00000360502.3:p.Leu325TyrfsTer9
ENST00000371447.3:c.974del ENSP00000360502.3:p.Leu325TyrfsTer9
NM_006204.3:c.974del NP_006195.3:p.Leu325TyrfsTer9
NM_006204.4:c.974del MANE Select NP_006195.3:p.Leu325TyrfsTer9
Search 100 bp 5'
Search 100 bp 3'