Canonical Allele Identifier: CA2669419708

Gene: PDE6B

Linked Data

• gnomAD v4: 4-660651-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.660651_660652insC , CM000666.2:g.660651_660652insC	GRCh38
NC_000004.11:g.654440_654441insC , CM000666.1:g.654440_654441insC	GRCh37
NC_000004.10:g.644440_644441insC	NCBI36
NG_009839.1:g.40078_40079insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.1614+38_1614+39insC MANE Select	ENSP00000420295.1:n.1614+38_1614+39insC
ENST00000255622.10:c.1614+38_1614+39insC	ENSP00000255622.6:n.1614+38_1614+39insC
ENST00000429163.6:c.777+38_777+39insC	ENSP00000406334.2:n.777+38_777+39insC
ENST00000496514.5:c.1614+38_1614+39insC	ENSP00000420295.1:n.1614+38_1614+39insC
NM_000283.3:c.1614+38_1614+39insC	NP_000274.2:n.1614+38_1614+39insC
NM_001145291.1:c.1614+38_1614+39insC	NP_001138763.1:n.1614+38_1614+39insC
NM_001145292.1:c.777+38_777+39insC	NP_001138764.1:n.777+38_777+39insC
XM_011513473.1:c.1833+38_1833+39insC	XP_011511775.1:n.1833+38_1833+39insC
XM_011513474.1:c.1833+38_1833+39insC	XP_011511776.1:n.1833+38_1833+39insC
XM_011513475.1:c.1614+38_1614+39insC	XP_011511777.1:n.1614+38_1614+39insC
XM_011513476.1:c.1833+38_1833+39insC	XP_011511778.1:n.1833+38_1833+39insC
XM_011513477.1:c.819+38_819+39insC	XP_011511779.1:n.819+38_819+39insC
XM_011513478.1:c.543+38_543+39insC	XP_011511780.1:n.543+38_543+39insC
NM_001350154.1:c.777+38_777+39insC	NP_001337083.1:n.777+38_777+39insC
NM_001350155.1:c.459+38_459+39insC	NP_001337084.1:n.459+38_459+39insC
XM_011513473.3:c.1833+38_1833+39insC	XP_011511775.1:n.1833+38_1833+39insC
XM_011513474.3:c.1833+38_1833+39insC	XP_011511776.1:n.1833+38_1833+39insC
XM_011513475.2:c.1614+38_1614+39insC	XP_011511777.1:n.1614+38_1614+39insC
XM_011513476.3:c.1833+38_1833+39insC	XP_011511778.1:n.1833+38_1833+39insC
XM_011513478.2:c.543+38_543+39insC	XP_011511780.1:n.543+38_543+39insC
XM_017008284.1:c.777+38_777+39insC	XP_016863773.1:n.777+38_777+39insC
XM_017008285.1:c.777+38_777+39insC	XP_016863774.1:n.777+38_777+39insC
XM_017008286.1:c.777+38_777+39insC	XP_016863775.1:n.777+38_777+39insC
NM_001350154.2:c.777+38_777+39insC	NP_001337083.1:n.777+38_777+39insC
NM_001350155.2:c.459+38_459+39insC	NP_001337084.1:n.459+38_459+39insC
NM_000283.4:c.1614+38_1614+39insC MANE Select	NP_000274.3:n.1614+38_1614+39insC
NM_001145291.2:c.1614+38_1614+39insC	NP_001138763.2:n.1614+38_1614+39insC
NM_001145292.2:c.777+38_777+39insC	NP_001138764.2:n.777+38_777+39insC
NM_001350154.3:c.777+38_777+39insC	NP_001337083.1:n.777+38_777+39insC
NM_001350155.3:c.459+38_459+39insC	NP_001337084.1:n.459+38_459+39insC
NM_001379246.1:c.777+38_777+39insC	NP_001366175.1:n.777+38_777+39insC
NM_001379247.1:c.777+38_777+39insC	NP_001366176.1:n.777+38_777+39insC