Canonical Allele Identifier: CA1058393943

Gene: PDE6B

Linked Data

• dbSNP Id: rs1736873583
• gnomAD v3: 4-660008-AGCCTACATGCGTGAGTCTGCACGTGTGT-A
• gnomAD v4: 4-660008-AGCCTACATGCGTGAGTCTGCACGTGTGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.660013_660040del , CM000666.2:g.660013_660040del	GRCh38
NC_000004.11:g.653802_653829del , CM000666.1:g.653802_653829del	GRCh37
NC_000004.10:g.643802_643829del	NCBI36
NG_009839.1:g.39440_39467del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.1468-454_1468-427del MANE Select	ENSP00000420295.1:n.1468-454_1468-427del
ENST00000255622.10:c.1468-454_1468-427del	ENSP00000255622.6:n.1468-454_1468-427del
ENST00000429163.6:c.631-454_631-427del	ENSP00000406334.2:n.631-454_631-427del
ENST00000496514.5:c.1468-454_1468-427del	ENSP00000420295.1:n.1468-454_1468-427del
NM_000283.3:c.1468-454_1468-427del	NP_000274.2:n.1468-454_1468-427del
NM_001145291.1:c.1468-454_1468-427del	NP_001138763.1:n.1468-454_1468-427del
NM_001145292.1:c.631-454_631-427del	NP_001138764.1:n.631-454_631-427del
XM_011513473.1:c.1687-454_1687-427del	XP_011511775.1:n.1687-454_1687-427del
XM_011513474.1:c.1687-454_1687-427del	XP_011511776.1:n.1687-454_1687-427del
XM_011513475.1:c.1468-454_1468-427del	XP_011511777.1:n.1468-454_1468-427del
XM_011513476.1:c.1687-454_1687-427del	XP_011511778.1:n.1687-454_1687-427del
XM_011513477.1:c.673-454_673-427del	XP_011511779.1:n.673-454_673-427del
XM_011513478.1:c.397-454_397-427del	XP_011511780.1:n.397-454_397-427del
NM_001350154.1:c.631-454_631-427del	NP_001337083.1:n.631-454_631-427del
NM_001350155.1:c.313-454_313-427del	NP_001337084.1:n.313-454_313-427del
XM_011513473.3:c.1687-454_1687-427del	XP_011511775.1:n.1687-454_1687-427del
XM_011513474.3:c.1687-454_1687-427del	XP_011511776.1:n.1687-454_1687-427del
XM_011513475.2:c.1468-454_1468-427del	XP_011511777.1:n.1468-454_1468-427del
XM_011513476.3:c.1687-454_1687-427del	XP_011511778.1:n.1687-454_1687-427del
XM_011513478.2:c.397-454_397-427del	XP_011511780.1:n.397-454_397-427del
XM_017008284.1:c.631-454_631-427del	XP_016863773.1:n.631-454_631-427del
XM_017008285.1:c.631-454_631-427del	XP_016863774.1:n.631-454_631-427del
XM_017008286.1:c.631-454_631-427del	XP_016863775.1:n.631-454_631-427del
NM_001350154.2:c.631-454_631-427del	NP_001337083.1:n.631-454_631-427del
NM_001350155.2:c.313-454_313-427del	NP_001337084.1:n.313-454_313-427del
NM_000283.4:c.1468-454_1468-427del MANE Select	NP_000274.3:n.1468-454_1468-427del
NM_001145291.2:c.1468-454_1468-427del	NP_001138763.2:n.1468-454_1468-427del
NM_001145292.2:c.631-454_631-427del	NP_001138764.2:n.631-454_631-427del
NM_001350154.3:c.631-454_631-427del	NP_001337083.1:n.631-454_631-427del
NM_001350155.3:c.313-454_313-427del	NP_001337084.1:n.313-454_313-427del
NM_001379246.1:c.631-454_631-427del	NP_001366175.1:n.631-454_631-427del
NM_001379247.1:c.631-454_631-427del	NP_001366176.1:n.631-454_631-427del