Canonical Allele Identifier: CA1590702441

Gene: PDE6A

Linked Data

• dbSNP Id: rs1752691283

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149895195_149895196insTCTGCCCC , CM000667.2:g.149895195_149895196insTCTGCCCC	GRCh38
NC_000005.9:g.149274758_149274759insTCTGCCCC , CM000667.1:g.149274758_149274759insTCTGCCCC	GRCh37
NC_000005.8:g.149254951_149254952insTCTGCCCC	NCBI36
NG_009102.1:g.54598_54599insGGGGCAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.1715_1716insGGGGCAGA MANE Select	ENSP00000255266.5:p.Phe572LeufsTer8
ENST00000255266.9:c.1715_1716insGGGGCAGA	ENSP00000255266.5:p.Phe572LeufsTer8
ENST00000508173.5:n.1899_1900insGGGGCAGA
ENST00000613228.1:c.1472_1473insGGGGCAGA	ENSP00000478060.1:p.Phe491LeufsTer8
ENST00000617647.4:c.1472_1473insGGGGCAGA	ENSP00000482774.1:p.Phe491LeufsTer8
NM_000440.2:c.1715_1716insGGGGCAGA	NP_000431.2:p.Phe572LeufsTer8
XM_011537648.1:c.1715_1716insGGGGCAGA	XP_011535950.1:p.Phe572LeufsTer8
XM_011537649.1:c.1169_1170insGGGGCAGA	XP_011535951.1:p.Phe390LeufsTer8
XM_011537650.1:c.830_831insGGGGCAGA	XP_011535952.1:p.Phe277LeufsTer8
XM_011537651.1:c.668_669insGGGGCAGA	XP_011535953.1:p.Phe223LeufsTer8
XM_011537652.1:c.638_639insGGGGCAGA	XP_011535954.1:p.Phe213LeufsTer8
XM_011537653.1:c.638_639insGGGGCAGA	XP_011535955.1:p.Phe213LeufsTer8
XM_011537654.1:c.638_639insGGGGCAGA	XP_011535956.1:p.Phe213LeufsTer8
XM_011537650.2:c.830_831insGGGGCAGA	XP_011535952.1:p.Phe277LeufsTer8
XM_011537651.2:c.668_669insGGGGCAGA	XP_011535953.1:p.Phe223LeufsTer8
XM_011537653.2:c.638_639insGGGGCAGA	XP_011535955.1:p.Phe213LeufsTer8
XM_011537654.2:c.638_639insGGGGCAGA	XP_011535956.1:p.Phe213LeufsTer8
XM_017009572.2:c.1472_1473insGGGGCAGA	XP_016865061.1:p.Phe491LeufsTer8
NM_000440.3:c.1715_1716insGGGGCAGA MANE Select	NP_000431.2:p.Phe572LeufsTer8