Canonical Allele Identifier: CA2669419742

Gene: PDE6B

Linked Data

• gnomAD v4: 4-660696-GCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.660699_660700del , CM000666.2:g.660699_660700del	GRCh38
NC_000004.11:g.654488_654489del , CM000666.1:g.654488_654489del	GRCh37
NC_000004.10:g.644488_644489del	NCBI36
NG_009839.1:g.40126_40127del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.1614+86_1614+87del MANE Select	ENSP00000420295.1:n.1614+86_1614+87del
ENST00000255622.10:c.1614+86_1614+87del	ENSP00000255622.6:n.1614+86_1614+87del
ENST00000429163.6:c.777+86_777+87del	ENSP00000406334.2:n.777+86_777+87del
ENST00000496514.5:c.1614+86_1614+87del	ENSP00000420295.1:n.1614+86_1614+87del
NM_000283.3:c.1614+86_1614+87del	NP_000274.2:n.1614+86_1614+87del
NM_001145291.1:c.1614+86_1614+87del	NP_001138763.1:n.1614+86_1614+87del
NM_001145292.1:c.777+86_777+87del	NP_001138764.1:n.777+86_777+87del
XM_011513473.1:c.1833+86_1833+87del	XP_011511775.1:n.1833+86_1833+87del
XM_011513474.1:c.1833+86_1833+87del	XP_011511776.1:n.1833+86_1833+87del
XM_011513475.1:c.1614+86_1614+87del	XP_011511777.1:n.1614+86_1614+87del
XM_011513476.1:c.1833+86_1833+87del	XP_011511778.1:n.1833+86_1833+87del
XM_011513477.1:c.819+86_819+87del	XP_011511779.1:n.819+86_819+87del
XM_011513478.1:c.543+86_543+87del	XP_011511780.1:n.543+86_543+87del
NM_001350154.1:c.777+86_777+87del	NP_001337083.1:n.777+86_777+87del
NM_001350155.1:c.459+86_459+87del	NP_001337084.1:n.459+86_459+87del
XM_011513473.3:c.1833+86_1833+87del	XP_011511775.1:n.1833+86_1833+87del
XM_011513474.3:c.1833+86_1833+87del	XP_011511776.1:n.1833+86_1833+87del
XM_011513475.2:c.1614+86_1614+87del	XP_011511777.1:n.1614+86_1614+87del
XM_011513476.3:c.1833+86_1833+87del	XP_011511778.1:n.1833+86_1833+87del
XM_011513478.2:c.543+86_543+87del	XP_011511780.1:n.543+86_543+87del
XM_017008284.1:c.777+86_777+87del	XP_016863773.1:n.777+86_777+87del
XM_017008285.1:c.777+86_777+87del	XP_016863774.1:n.777+86_777+87del
XM_017008286.1:c.777+86_777+87del	XP_016863775.1:n.777+86_777+87del
NM_001350154.2:c.777+86_777+87del	NP_001337083.1:n.777+86_777+87del
NM_001350155.2:c.459+86_459+87del	NP_001337084.1:n.459+86_459+87del
NM_000283.4:c.1614+86_1614+87del MANE Select	NP_000274.3:n.1614+86_1614+87del
NM_001145291.2:c.1614+86_1614+87del	NP_001138763.2:n.1614+86_1614+87del
NM_001145292.2:c.777+86_777+87del	NP_001138764.2:n.777+86_777+87del
NM_001350154.3:c.777+86_777+87del	NP_001337083.1:n.777+86_777+87del
NM_001350155.3:c.459+86_459+87del	NP_001337084.1:n.459+86_459+87del
NM_001379246.1:c.777+86_777+87del	NP_001366175.1:n.777+86_777+87del
NM_001379247.1:c.777+86_777+87del	NP_001366176.1:n.777+86_777+87del