Canonical Allele Identifier: CA2843606443

Gene: PDE6A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149895260dup , CM000667.2:g.149895260dup	GRCh38
NC_000005.9:g.149274823dup , CM000667.1:g.149274823dup	GRCh37
NC_000005.8:g.149255016dup	NCBI36
NG_009102.1:g.54535dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.1652dup MANE Select	ENSP00000255266.5:p.Tyr553LeufsTer?
ENST00000255266.9:c.1652dup	ENSP00000255266.5:p.Tyr553LeufsTer?
ENST00000508173.5:n.1836dup
ENST00000613228.1:c.1409dup	ENSP00000478060.1:p.Tyr472LeufsTer?
ENST00000617647.4:c.1409dup	ENSP00000482774.1:p.Tyr472LeufsTer?
NM_000440.2:c.1652dup	NP_000431.2:p.Tyr553LeufsTer?
XM_011537648.1:c.1652dup	XP_011535950.1:p.Tyr553LeufsTer?
XM_011537649.1:c.1106dup	XP_011535951.1:p.Tyr371LeufsTer?
XM_011537650.1:c.767dup	XP_011535952.1:p.Tyr258LeufsTer?
XM_011537651.1:c.605dup	XP_011535953.1:p.Tyr204LeufsTer?
XM_011537652.1:c.575dup	XP_011535954.1:p.Tyr194LeufsTer?
XM_011537653.1:c.575dup	XP_011535955.1:p.Tyr194LeufsTer?
XM_011537654.1:c.575dup	XP_011535956.1:p.Tyr194LeufsTer?
XM_011537650.2:c.767dup	XP_011535952.1:p.Tyr258LeufsTer?
XM_011537651.2:c.605dup	XP_011535953.1:p.Tyr204LeufsTer?
XM_011537653.2:c.575dup	XP_011535955.1:p.Tyr194LeufsTer?
XM_011537654.2:c.575dup	XP_011535956.1:p.Tyr194LeufsTer?
XM_017009572.2:c.1409dup	XP_016865061.1:p.Tyr472LeufsTer?
NM_000440.3:c.1652dup MANE Select	NP_000431.2:p.Tyr553LeufsTer?