Canonical Allele Identifier: CA16621828
Gene: PDE6A HGNC NCBI

Linked Data

ClinVar Variation Id: 425360
ClinVar RCV Id: RCV000487999
dbSNP Id: rs1064797315
MyVariant Identifiers: chr5:g.149277972del (hg19) chr5:g.149898409del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149898409del , CM000667.2:g.149898409del GRCh38
NC_000005.9:g.149277972del , CM000667.1:g.149277972del GRCh37
NC_000005.8:g.149258165del NCBI36
NG_009102.1:g.51385del

Transcript Alleles

HGVS Amino-acid change
ENST00000255266.10:c.1361del MANE Select ENSP00000255266.5:p.Val454GlufsTer5
ENST00000255266.9:c.1361del ENSP00000255266.5:p.Val454GlufsTer5
ENST00000508173.5:n.1383+966del
ENST00000613228.1:c.1118del ENSP00000478060.1:p.Val373GlufsTer5
ENST00000617647.4:c.1118del ENSP00000482774.1:p.Val373GlufsTer5
NM_000440.2:c.1361del NP_000431.2:p.Val454GlufsTer5
XM_011537648.1:c.1361del XP_011535950.1:p.Val454GlufsTer5
XM_011537649.1:c.815del XP_011535951.1:p.Val272GlufsTer5
XM_011537650.1:c.476del XP_011535952.1:p.Val159GlufsTer5
XM_011537651.1:c.314del XP_011535953.1:p.Val105GlufsTer5
XM_011537652.1:c.284del XP_011535954.1:p.Val95GlufsTer5
XM_011537653.1:c.284del XP_011535955.1:p.Val95GlufsTer5
XM_011537654.1:c.284del XP_011535956.1:p.Val95GlufsTer5
XM_011537650.2:c.476del XP_011535952.1:p.Val159GlufsTer5
XM_011537651.2:c.314del XP_011535953.1:p.Val105GlufsTer5
XM_011537653.2:c.284del XP_011535955.1:p.Val95GlufsTer5
XM_011537654.2:c.284del XP_011535956.1:p.Val95GlufsTer5
XM_017009572.2:c.1118del XP_016865061.1:p.Val373GlufsTer5
NM_000440.3:c.1361del MANE Select NP_000431.2:p.Val454GlufsTer5
Search 100 bp 5'
Search 100 bp 3'