Canonical Allele Identifier: CA91087012

Gene: PDE6B

Linked Data

• dbSNP Id: rs890514219
• gnomAD v2: 4-653948-C-CGT
• gnomAD v3: 4-660159-C-CGT
• gnomAD v4: 4-660159-C-CGT
• MyVariant Identifiers: chr4:g.653952_653953insGT (hg19) ; chr4:g.653948_653949insGT (hg19) ; chr4:g.660163_660164insGT (hg38) ; chr4:g.660159_660160insGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.660172_660173dup , CM000666.2:g.660172_660173dup	GRCh38
NC_000004.11:g.653961_653962dup , CM000666.1:g.653961_653962dup	GRCh37
NC_000004.10:g.643961_643962dup	NCBI36
NG_009839.1:g.39599_39600dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.1468-295_1468-294dup MANE Select	ENSP00000420295.1:n.1468-295_1468-294dup
ENST00000255622.10:c.1468-295_1468-294dup	ENSP00000255622.6:n.1468-295_1468-294dup
ENST00000429163.6:c.631-295_631-294dup	ENSP00000406334.2:n.631-295_631-294dup
ENST00000496514.5:c.1468-295_1468-294dup	ENSP00000420295.1:n.1468-295_1468-294dup
NM_000283.3:c.1468-295_1468-294dup	NP_000274.2:n.1468-295_1468-294dup
NM_001145291.1:c.1468-295_1468-294dup	NP_001138763.1:n.1468-295_1468-294dup
NM_001145292.1:c.631-295_631-294dup	NP_001138764.1:n.631-295_631-294dup
XM_011513473.1:c.1687-295_1687-294dup	XP_011511775.1:n.1687-295_1687-294dup
XM_011513474.1:c.1687-295_1687-294dup	XP_011511776.1:n.1687-295_1687-294dup
XM_011513475.1:c.1468-295_1468-294dup	XP_011511777.1:n.1468-295_1468-294dup
XM_011513476.1:c.1687-295_1687-294dup	XP_011511778.1:n.1687-295_1687-294dup
XM_011513477.1:c.673-295_673-294dup	XP_011511779.1:n.673-295_673-294dup
XM_011513478.1:c.397-295_397-294dup	XP_011511780.1:n.397-295_397-294dup
NM_001350154.1:c.631-295_631-294dup	NP_001337083.1:n.631-295_631-294dup
NM_001350155.1:c.313-295_313-294dup	NP_001337084.1:n.313-295_313-294dup
XM_011513473.3:c.1687-295_1687-294dup	XP_011511775.1:n.1687-295_1687-294dup
XM_011513474.3:c.1687-295_1687-294dup	XP_011511776.1:n.1687-295_1687-294dup
XM_011513475.2:c.1468-295_1468-294dup	XP_011511777.1:n.1468-295_1468-294dup
XM_011513476.3:c.1687-295_1687-294dup	XP_011511778.1:n.1687-295_1687-294dup
XM_011513478.2:c.397-295_397-294dup	XP_011511780.1:n.397-295_397-294dup
XM_017008284.1:c.631-295_631-294dup	XP_016863773.1:n.631-295_631-294dup
XM_017008285.1:c.631-295_631-294dup	XP_016863774.1:n.631-295_631-294dup
XM_017008286.1:c.631-295_631-294dup	XP_016863775.1:n.631-295_631-294dup
NM_001350154.2:c.631-295_631-294dup	NP_001337083.1:n.631-295_631-294dup
NM_001350155.2:c.313-295_313-294dup	NP_001337084.1:n.313-295_313-294dup
NM_000283.4:c.1468-295_1468-294dup MANE Select	NP_000274.3:n.1468-295_1468-294dup
NM_001145291.2:c.1468-295_1468-294dup	NP_001138763.2:n.1468-295_1468-294dup
NM_001145292.2:c.631-295_631-294dup	NP_001138764.2:n.631-295_631-294dup
NM_001350154.3:c.631-295_631-294dup	NP_001337083.1:n.631-295_631-294dup
NM_001350155.3:c.313-295_313-294dup	NP_001337084.1:n.313-295_313-294dup
NM_001379246.1:c.631-295_631-294dup	NP_001366175.1:n.631-295_631-294dup
NM_001379247.1:c.631-295_631-294dup	NP_001366176.1:n.631-295_631-294dup