Canonical Allele Identifier: CA797478171

Gene: PDE6B

Linked Data

• dbSNP Id: rs1411144638
• MyVariant Identifiers: chr4:g.653937_653938insTGTC (hg19) ; chr4:g.660148_660149insTGTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.660152_660155dup , CM000666.2:g.660152_660155dup	GRCh38
NC_000004.11:g.653941_653944dup , CM000666.1:g.653941_653944dup	GRCh37
NC_000004.10:g.643941_643944dup	NCBI36
NG_009839.1:g.39579_39582dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.1468-315_1468-312dup MANE Select	ENSP00000420295.1:n.1468-315_1468-312dup
ENST00000255622.10:c.1468-315_1468-312dup	ENSP00000255622.6:n.1468-315_1468-312dup
ENST00000429163.6:c.631-315_631-312dup	ENSP00000406334.2:n.631-315_631-312dup
ENST00000496514.5:c.1468-315_1468-312dup	ENSP00000420295.1:n.1468-315_1468-312dup
NM_000283.3:c.1468-315_1468-312dup	NP_000274.2:n.1468-315_1468-312dup
NM_001145291.1:c.1468-315_1468-312dup	NP_001138763.1:n.1468-315_1468-312dup
NM_001145292.1:c.631-315_631-312dup	NP_001138764.1:n.631-315_631-312dup
XM_011513473.1:c.1687-315_1687-312dup	XP_011511775.1:n.1687-315_1687-312dup
XM_011513474.1:c.1687-315_1687-312dup	XP_011511776.1:n.1687-315_1687-312dup
XM_011513475.1:c.1468-315_1468-312dup	XP_011511777.1:n.1468-315_1468-312dup
XM_011513476.1:c.1687-315_1687-312dup	XP_011511778.1:n.1687-315_1687-312dup
XM_011513477.1:c.673-315_673-312dup	XP_011511779.1:n.673-315_673-312dup
XM_011513478.1:c.397-315_397-312dup	XP_011511780.1:n.397-315_397-312dup
NM_001350154.1:c.631-315_631-312dup	NP_001337083.1:n.631-315_631-312dup
NM_001350155.1:c.313-315_313-312dup	NP_001337084.1:n.313-315_313-312dup
XM_011513473.3:c.1687-315_1687-312dup	XP_011511775.1:n.1687-315_1687-312dup
XM_011513474.3:c.1687-315_1687-312dup	XP_011511776.1:n.1687-315_1687-312dup
XM_011513475.2:c.1468-315_1468-312dup	XP_011511777.1:n.1468-315_1468-312dup
XM_011513476.3:c.1687-315_1687-312dup	XP_011511778.1:n.1687-315_1687-312dup
XM_011513478.2:c.397-315_397-312dup	XP_011511780.1:n.397-315_397-312dup
XM_017008284.1:c.631-315_631-312dup	XP_016863773.1:n.631-315_631-312dup
XM_017008285.1:c.631-315_631-312dup	XP_016863774.1:n.631-315_631-312dup
XM_017008286.1:c.631-315_631-312dup	XP_016863775.1:n.631-315_631-312dup
NM_001350154.2:c.631-315_631-312dup	NP_001337083.1:n.631-315_631-312dup
NM_001350155.2:c.313-315_313-312dup	NP_001337084.1:n.313-315_313-312dup
NM_000283.4:c.1468-315_1468-312dup MANE Select	NP_000274.3:n.1468-315_1468-312dup
NM_001145291.2:c.1468-315_1468-312dup	NP_001138763.2:n.1468-315_1468-312dup
NM_001145292.2:c.631-315_631-312dup	NP_001138764.2:n.631-315_631-312dup
NM_001350154.3:c.631-315_631-312dup	NP_001337083.1:n.631-315_631-312dup
NM_001350155.3:c.313-315_313-312dup	NP_001337084.1:n.313-315_313-312dup
NM_001379246.1:c.631-315_631-312dup	NP_001366175.1:n.631-315_631-312dup
NM_001379247.1:c.631-315_631-312dup	NP_001366176.1:n.631-315_631-312dup