Canonical Allele Identifier: CA2669419714

Gene: PDE6B

Linked Data

• gnomAD v4: 4-660657-C-CTGAGGTGTCTGAGGCTTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.660657_660658insTGAGGTGTCTGAGGCTTGG , CM000666.2:g.660657_660658insTGAGGTGTCTGAGGCTTGG	GRCh38
NC_000004.11:g.654446_654447insTGAGGTGTCTGAGGCTTGG , CM000666.1:g.654446_654447insTGAGGTGTCTGAGGCTTGG	GRCh37
NC_000004.10:g.644446_644447insTGAGGTGTCTGAGGCTTGG	NCBI36
NG_009839.1:g.40084_40085insTGAGGTGTCTGAGGCTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.1614+44_1614+45insTGAGGTGTCTGAGGCTTGG MANE Select	ENSP00000420295.1:n.1614+44_1614+45insTGAGGTGTCTGAGGCTTGG
ENST00000255622.10:c.1614+44_1614+45insTGAGGTGTCTGAGGCTTGG	ENSP00000255622.6:n.1614+44_1614+45insTGAGGTGTCTGAGGCTTGG
ENST00000429163.6:c.777+44_777+45insTGAGGTGTCTGAGGCTTGG	ENSP00000406334.2:n.777+44_777+45insTGAGGTGTCTGAGGCTTGG
ENST00000496514.5:c.1614+44_1614+45insTGAGGTGTCTGAGGCTTGG	ENSP00000420295.1:n.1614+44_1614+45insTGAGGTGTCTGAGGCTTGG
NM_000283.3:c.1614+44_1614+45insTGAGGTGTCTGAGGCTTGG	NP_000274.2:n.1614+44_1614+45insTGAGGTGTCTGAGGCTTGG
NM_001145291.1:c.1614+44_1614+45insTGAGGTGTCTGAGGCTTGG	NP_001138763.1:n.1614+44_1614+45insTGAGGTGTCTGAGGCTTGG
NM_001145292.1:c.777+44_777+45insTGAGGTGTCTGAGGCTTGG	NP_001138764.1:n.777+44_777+45insTGAGGTGTCTGAGGCTTGG
XM_011513473.1:c.1833+44_1833+45insTGAGGTGTCTGAGGCTTGG	XP_011511775.1:n.1833+44_1833+45insTGAGGTGTCTGAGGCTTGG
XM_011513474.1:c.1833+44_1833+45insTGAGGTGTCTGAGGCTTGG	XP_011511776.1:n.1833+44_1833+45insTGAGGTGTCTGAGGCTTGG
XM_011513475.1:c.1614+44_1614+45insTGAGGTGTCTGAGGCTTGG	XP_011511777.1:n.1614+44_1614+45insTGAGGTGTCTGAGGCTTGG
XM_011513476.1:c.1833+44_1833+45insTGAGGTGTCTGAGGCTTGG	XP_011511778.1:n.1833+44_1833+45insTGAGGTGTCTGAGGCTTGG
XM_011513477.1:c.819+44_819+45insTGAGGTGTCTGAGGCTTGG	XP_011511779.1:n.819+44_819+45insTGAGGTGTCTGAGGCTTGG
XM_011513478.1:c.543+44_543+45insTGAGGTGTCTGAGGCTTGG	XP_011511780.1:n.543+44_543+45insTGAGGTGTCTGAGGCTTGG
NM_001350154.1:c.777+44_777+45insTGAGGTGTCTGAGGCTTGG	NP_001337083.1:n.777+44_777+45insTGAGGTGTCTGAGGCTTGG
NM_001350155.1:c.459+44_459+45insTGAGGTGTCTGAGGCTTGG	NP_001337084.1:n.459+44_459+45insTGAGGTGTCTGAGGCTTGG
XM_011513473.3:c.1833+44_1833+45insTGAGGTGTCTGAGGCTTGG	XP_011511775.1:n.1833+44_1833+45insTGAGGTGTCTGAGGCTTGG
XM_011513474.3:c.1833+44_1833+45insTGAGGTGTCTGAGGCTTGG	XP_011511776.1:n.1833+44_1833+45insTGAGGTGTCTGAGGCTTGG
XM_011513475.2:c.1614+44_1614+45insTGAGGTGTCTGAGGCTTGG	XP_011511777.1:n.1614+44_1614+45insTGAGGTGTCTGAGGCTTGG
XM_011513476.3:c.1833+44_1833+45insTGAGGTGTCTGAGGCTTGG	XP_011511778.1:n.1833+44_1833+45insTGAGGTGTCTGAGGCTTGG
XM_011513478.2:c.543+44_543+45insTGAGGTGTCTGAGGCTTGG	XP_011511780.1:n.543+44_543+45insTGAGGTGTCTGAGGCTTGG
XM_017008284.1:c.777+44_777+45insTGAGGTGTCTGAGGCTTGG	XP_016863773.1:n.777+44_777+45insTGAGGTGTCTGAGGCTTGG
XM_017008285.1:c.777+44_777+45insTGAGGTGTCTGAGGCTTGG	XP_016863774.1:n.777+44_777+45insTGAGGTGTCTGAGGCTTGG
XM_017008286.1:c.777+44_777+45insTGAGGTGTCTGAGGCTTGG	XP_016863775.1:n.777+44_777+45insTGAGGTGTCTGAGGCTTGG
NM_001350154.2:c.777+44_777+45insTGAGGTGTCTGAGGCTTGG	NP_001337083.1:n.777+44_777+45insTGAGGTGTCTGAGGCTTGG
NM_001350155.2:c.459+44_459+45insTGAGGTGTCTGAGGCTTGG	NP_001337084.1:n.459+44_459+45insTGAGGTGTCTGAGGCTTGG
NM_000283.4:c.1614+44_1614+45insTGAGGTGTCTGAGGCTTGG MANE Select	NP_000274.3:n.1614+44_1614+45insTGAGGTGTCTGAGGCTTGG
NM_001145291.2:c.1614+44_1614+45insTGAGGTGTCTGAGGCTTGG	NP_001138763.2:n.1614+44_1614+45insTGAGGTGTCTGAGGCTTGG
NM_001145292.2:c.777+44_777+45insTGAGGTGTCTGAGGCTTGG	NP_001138764.2:n.777+44_777+45insTGAGGTGTCTGAGGCTTGG
NM_001350154.3:c.777+44_777+45insTGAGGTGTCTGAGGCTTGG	NP_001337083.1:n.777+44_777+45insTGAGGTGTCTGAGGCTTGG
NM_001350155.3:c.459+44_459+45insTGAGGTGTCTGAGGCTTGG	NP_001337084.1:n.459+44_459+45insTGAGGTGTCTGAGGCTTGG
NM_001379246.1:c.777+44_777+45insTGAGGTGTCTGAGGCTTGG	NP_001366175.1:n.777+44_777+45insTGAGGTGTCTGAGGCTTGG
NM_001379247.1:c.777+44_777+45insTGAGGTGTCTGAGGCTTGG	NP_001366176.1:n.777+44_777+45insTGAGGTGTCTGAGGCTTGG