Canonical Allele Identifier: CA2574631802
Gene: PDE6C HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.93626668del , CM000672.2:g.93626668del GRCh38
NC_000010.10:g.95386425del , CM000672.1:g.95386425del GRCh37
NC_000010.9:g.95376415del NCBI36
NG_016752.1:g.19081del

Transcript Alleles

HGVS Amino-acid change
ENST00000371447.4:c.968del MANE Select ENSP00000360502.3:p.Tyr323SerfsTer11
ENST00000371447.3:c.968del ENSP00000360502.3:p.Tyr323SerfsTer11
NM_006204.3:c.968del NP_006195.3:p.Tyr323SerfsTer11
NM_006204.4:c.968del MANE Select NP_006195.3:p.Tyr323SerfsTer11
Search 100 bp 5'
Search 100 bp 3'