Canonical Allele Identifier: CA2669421183

Gene: PDE6B

Linked Data

• gnomAD v4: 4-662268-TTGTGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.662269_662273del , CM000666.2:g.662269_662273del	GRCh38
NC_000004.11:g.656058_656062del , CM000666.1:g.656058_656062del	GRCh37
NC_000004.10:g.646058_646062del	NCBI36
NG_009839.1:g.41696_41700del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.1722+28_1722+32del MANE Select	ENSP00000420295.1:n.1722+28_1722+32del
ENST00000255622.10:c.1722+28_1722+32del	ENSP00000255622.6:n.1722+28_1722+32del
ENST00000429163.6:c.885+28_885+32del	ENSP00000406334.2:n.885+28_885+32del
ENST00000496514.5:c.1722+28_1722+32del	ENSP00000420295.1:n.1722+28_1722+32del
NM_000283.3:c.1722+28_1722+32del	NP_000274.2:n.1722+28_1722+32del
NM_001145291.1:c.1722+28_1722+32del	NP_001138763.1:n.1722+28_1722+32del
NM_001145292.1:c.885+28_885+32del	NP_001138764.1:n.885+28_885+32del
XM_011513473.1:c.1941+28_1941+32del	XP_011511775.1:n.1941+28_1941+32del
XM_011513474.1:c.1941+28_1941+32del	XP_011511776.1:n.1941+28_1941+32del
XM_011513475.1:c.1722+28_1722+32del	XP_011511777.1:n.1722+28_1722+32del
XM_011513476.1:c.1941+28_1941+32del	XP_011511778.1:n.1941+28_1941+32del
XM_011513477.1:c.927+28_927+32del	XP_011511779.1:n.927+28_927+32del
XM_011513478.1:c.651+28_651+32del	XP_011511780.1:n.651+28_651+32del
XR_925029.1:n.270_274del
NM_001350154.1:c.885+28_885+32del	NP_001337083.1:n.885+28_885+32del
NM_001350155.1:c.567+28_567+32del	NP_001337084.1:n.567+28_567+32del
XM_011513473.3:c.1941+28_1941+32del	XP_011511775.1:n.1941+28_1941+32del
XM_011513474.3:c.1941+28_1941+32del	XP_011511776.1:n.1941+28_1941+32del
XM_011513475.2:c.1722+28_1722+32del	XP_011511777.1:n.1722+28_1722+32del
XM_011513476.3:c.1941+28_1941+32del	XP_011511778.1:n.1941+28_1941+32del
XM_011513478.2:c.651+28_651+32del	XP_011511780.1:n.651+28_651+32del
XM_017008284.1:c.885+28_885+32del	XP_016863773.1:n.885+28_885+32del
XM_017008285.1:c.885+28_885+32del	XP_016863774.1:n.885+28_885+32del
XM_017008286.1:c.885+28_885+32del	XP_016863775.1:n.885+28_885+32del
NM_001350154.2:c.885+28_885+32del	NP_001337083.1:n.885+28_885+32del
NM_001350155.2:c.567+28_567+32del	NP_001337084.1:n.567+28_567+32del
NM_000283.4:c.1722+28_1722+32del MANE Select	NP_000274.3:n.1722+28_1722+32del
NM_001145291.2:c.1722+28_1722+32del	NP_001138763.2:n.1722+28_1722+32del
NM_001145292.2:c.885+28_885+32del	NP_001138764.2:n.885+28_885+32del
NM_001350154.3:c.885+28_885+32del	NP_001337083.1:n.885+28_885+32del
NM_001350155.3:c.567+28_567+32del	NP_001337084.1:n.567+28_567+32del
NM_001379246.1:c.885+28_885+32del	NP_001366175.1:n.885+28_885+32del
NM_001379247.1:c.885+28_885+32del	NP_001366176.1:n.885+28_885+32del