Canonical Allele Identifier: CA2794645

Gene: PDE6B

Linked Data

• ClinVar Variation Id: 1628543
• ClinVar RCV Id: RCV002116186
• dbSNP Id: rs750408903
• ExAC: 4:656040 T / TGCCAGAATCACCAGGGTTGTGCAG
• gnomAD v2: 4-656040-T-TGCCAGAATCACCAGGGTTGTGCAG
• gnomAD v3: 4-662251-T-TGCCAGAATCACCAGGGTTGTGCAG
• gnomAD v4: 4-662251-T-TGCCAGAATCACCAGGGTTGTGCAG
• MyVariant Identifiers: chr4:g.656040_656041insGCCAGAATCACCAGGGTTGTGCAG (hg19) ; chr4:g.662251_662252insGCCAGAATCACCAGGGTTGTGCAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.662255_662278dup , CM000666.2:g.662255_662278dup	GRCh38
NC_000004.11:g.656044_656067dup , CM000666.1:g.656044_656067dup	GRCh37
NC_000004.10:g.646044_646067dup	NCBI36
NG_009839.1:g.41682_41705dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.1722+14_1722+37dup MANE Select	ENSP00000420295.1:n.1722+14_1722+37dup
ENST00000255622.10:c.1722+14_1722+37dup	ENSP00000255622.6:n.1722+14_1722+37dup
ENST00000429163.6:c.885+14_885+37dup	ENSP00000406334.2:n.885+14_885+37dup
ENST00000496514.5:c.1722+14_1722+37dup	ENSP00000420295.1:n.1722+14_1722+37dup
NM_000283.3:c.1722+14_1722+37dup	NP_000274.2:n.1722+14_1722+37dup
NM_001145291.1:c.1722+14_1722+37dup	NP_001138763.1:n.1722+14_1722+37dup
NM_001145292.1:c.885+14_885+37dup	NP_001138764.1:n.885+14_885+37dup
XM_011513473.1:c.1941+14_1941+37dup	XP_011511775.1:n.1941+14_1941+37dup
XM_011513474.1:c.1941+14_1941+37dup	XP_011511776.1:n.1941+14_1941+37dup
XM_011513475.1:c.1722+14_1722+37dup	XP_011511777.1:n.1722+14_1722+37dup
XM_011513476.1:c.1941+14_1941+37dup	XP_011511778.1:n.1941+14_1941+37dup
XM_011513477.1:c.927+14_927+37dup	XP_011511779.1:n.927+14_927+37dup
XM_011513478.1:c.651+14_651+37dup	XP_011511780.1:n.651+14_651+37dup
XR_925029.1:n.268_291dup
NM_001350154.1:c.885+14_885+37dup	NP_001337083.1:n.885+14_885+37dup
NM_001350155.1:c.567+14_567+37dup	NP_001337084.1:n.567+14_567+37dup
XM_011513473.3:c.1941+14_1941+37dup	XP_011511775.1:n.1941+14_1941+37dup
XM_011513474.3:c.1941+14_1941+37dup	XP_011511776.1:n.1941+14_1941+37dup
XM_011513475.2:c.1722+14_1722+37dup	XP_011511777.1:n.1722+14_1722+37dup
XM_011513476.3:c.1941+14_1941+37dup	XP_011511778.1:n.1941+14_1941+37dup
XM_011513478.2:c.651+14_651+37dup	XP_011511780.1:n.651+14_651+37dup
XM_017008284.1:c.885+14_885+37dup	XP_016863773.1:n.885+14_885+37dup
XM_017008285.1:c.885+14_885+37dup	XP_016863774.1:n.885+14_885+37dup
XM_017008286.1:c.885+14_885+37dup	XP_016863775.1:n.885+14_885+37dup
NM_001350154.2:c.885+14_885+37dup	NP_001337083.1:n.885+14_885+37dup
NM_001350155.2:c.567+14_567+37dup	NP_001337084.1:n.567+14_567+37dup
NM_000283.4:c.1722+14_1722+37dup MANE Select	NP_000274.3:n.1722+14_1722+37dup
NM_001145291.2:c.1722+14_1722+37dup	NP_001138763.2:n.1722+14_1722+37dup
NM_001145292.2:c.885+14_885+37dup	NP_001138764.2:n.885+14_885+37dup
NM_001350154.3:c.885+14_885+37dup	NP_001337083.1:n.885+14_885+37dup
NM_001350155.3:c.567+14_567+37dup	NP_001337084.1:n.567+14_567+37dup
NM_001379246.1:c.885+14_885+37dup	NP_001366175.1:n.885+14_885+37dup
NM_001379247.1:c.885+14_885+37dup	NP_001366176.1:n.885+14_885+37dup