Canonical Allele Identifier: CA2669421217

Gene: PDE6B

Linked Data

• gnomAD v4: 4-662278-C-CAGAATCACCAGGGTTGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.662278_662279insAGAATCACCAGGGTTGTG , CM000666.2:g.662278_662279insAGAATCACCAGGGTTGTG	GRCh38
NC_000004.11:g.656067_656068insAGAATCACCAGGGTTGTG , CM000666.1:g.656067_656068insAGAATCACCAGGGTTGTG	GRCh37
NC_000004.10:g.646067_646068insAGAATCACCAGGGTTGTG	NCBI36
NG_009839.1:g.41705_41706insAGAATCACCAGGGTTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.1722+37_1722+38insAGAATCACCAGGGTTGTG MANE Select	ENSP00000420295.1:n.1722+37_1722+38insAGAATCACCAGGGTTGTG
ENST00000255622.10:c.1722+37_1722+38insAGAATCACCAGGGTTGTG	ENSP00000255622.6:n.1722+37_1722+38insAGAATCACCAGGGTTGTG
ENST00000429163.6:c.885+37_885+38insAGAATCACCAGGGTTGTG	ENSP00000406334.2:n.885+37_885+38insAGAATCACCAGGGTTGTG
ENST00000496514.5:c.1722+37_1722+38insAGAATCACCAGGGTTGTG	ENSP00000420295.1:n.1722+37_1722+38insAGAATCACCAGGGTTGTG
NM_000283.3:c.1722+37_1722+38insAGAATCACCAGGGTTGTG	NP_000274.2:n.1722+37_1722+38insAGAATCACCAGGGTTGTG
NM_001145291.1:c.1722+37_1722+38insAGAATCACCAGGGTTGTG	NP_001138763.1:n.1722+37_1722+38insAGAATCACCAGGGTTGTG
NM_001145292.1:c.885+37_885+38insAGAATCACCAGGGTTGTG	NP_001138764.1:n.885+37_885+38insAGAATCACCAGGGTTGTG
XM_011513473.1:c.1941+37_1941+38insAGAATCACCAGGGTTGTG	XP_011511775.1:n.1941+37_1941+38insAGAATCACCAGGGTTGTG
XM_011513474.1:c.1941+37_1941+38insAGAATCACCAGGGTTGTG	XP_011511776.1:n.1941+37_1941+38insAGAATCACCAGGGTTGTG
XM_011513475.1:c.1722+37_1722+38insAGAATCACCAGGGTTGTG	XP_011511777.1:n.1722+37_1722+38insAGAATCACCAGGGTTGTG
XM_011513476.1:c.1941+37_1941+38insAGAATCACCAGGGTTGTG	XP_011511778.1:n.1941+37_1941+38insAGAATCACCAGGGTTGTG
XM_011513477.1:c.927+37_927+38insAGAATCACCAGGGTTGTG	XP_011511779.1:n.927+37_927+38insAGAATCACCAGGGTTGTG
XM_011513478.1:c.651+37_651+38insAGAATCACCAGGGTTGTG	XP_011511780.1:n.651+37_651+38insAGAATCACCAGGGTTGTG
XR_925029.1:n.264_265insCACAACCCTGGTGATTCT
NM_001350154.1:c.885+37_885+38insAGAATCACCAGGGTTGTG	NP_001337083.1:n.885+37_885+38insAGAATCACCAGGGTTGTG
NM_001350155.1:c.567+37_567+38insAGAATCACCAGGGTTGTG	NP_001337084.1:n.567+37_567+38insAGAATCACCAGGGTTGTG
XM_011513473.3:c.1941+37_1941+38insAGAATCACCAGGGTTGTG	XP_011511775.1:n.1941+37_1941+38insAGAATCACCAGGGTTGTG
XM_011513474.3:c.1941+37_1941+38insAGAATCACCAGGGTTGTG	XP_011511776.1:n.1941+37_1941+38insAGAATCACCAGGGTTGTG
XM_011513475.2:c.1722+37_1722+38insAGAATCACCAGGGTTGTG	XP_011511777.1:n.1722+37_1722+38insAGAATCACCAGGGTTGTG
XM_011513476.3:c.1941+37_1941+38insAGAATCACCAGGGTTGTG	XP_011511778.1:n.1941+37_1941+38insAGAATCACCAGGGTTGTG
XM_011513478.2:c.651+37_651+38insAGAATCACCAGGGTTGTG	XP_011511780.1:n.651+37_651+38insAGAATCACCAGGGTTGTG
XM_017008284.1:c.885+37_885+38insAGAATCACCAGGGTTGTG	XP_016863773.1:n.885+37_885+38insAGAATCACCAGGGTTGTG
XM_017008285.1:c.885+37_885+38insAGAATCACCAGGGTTGTG	XP_016863774.1:n.885+37_885+38insAGAATCACCAGGGTTGTG
XM_017008286.1:c.885+37_885+38insAGAATCACCAGGGTTGTG	XP_016863775.1:n.885+37_885+38insAGAATCACCAGGGTTGTG
NM_001350154.2:c.885+37_885+38insAGAATCACCAGGGTTGTG	NP_001337083.1:n.885+37_885+38insAGAATCACCAGGGTTGTG
NM_001350155.2:c.567+37_567+38insAGAATCACCAGGGTTGTG	NP_001337084.1:n.567+37_567+38insAGAATCACCAGGGTTGTG
NM_000283.4:c.1722+37_1722+38insAGAATCACCAGGGTTGTG MANE Select	NP_000274.3:n.1722+37_1722+38insAGAATCACCAGGGTTGTG
NM_001145291.2:c.1722+37_1722+38insAGAATCACCAGGGTTGTG	NP_001138763.2:n.1722+37_1722+38insAGAATCACCAGGGTTGTG
NM_001145292.2:c.885+37_885+38insAGAATCACCAGGGTTGTG	NP_001138764.2:n.885+37_885+38insAGAATCACCAGGGTTGTG
NM_001350154.3:c.885+37_885+38insAGAATCACCAGGGTTGTG	NP_001337083.1:n.885+37_885+38insAGAATCACCAGGGTTGTG
NM_001350155.3:c.567+37_567+38insAGAATCACCAGGGTTGTG	NP_001337084.1:n.567+37_567+38insAGAATCACCAGGGTTGTG
NM_001379246.1:c.885+37_885+38insAGAATCACCAGGGTTGTG	NP_001366175.1:n.885+37_885+38insAGAATCACCAGGGTTGTG
NM_001379247.1:c.885+37_885+38insAGAATCACCAGGGTTGTG	NP_001366176.1:n.885+37_885+38insAGAATCACCAGGGTTGTG