Canonical Allele Identifier: CA549263336

Gene: PDE6B PDE6B-AS1

Linked Data

• dbSNP Id: rs1244568570
• gnomAD v2: 4-647817-CCCGACCCAGGT-C
• gnomAD v3: 4-654028-CCCGACCCAGGT-C
• gnomAD v4: 4-654028-CCCGACCCAGGT-C
• MyVariant Identifiers: chr4:g.647818_647828del (hg19) ; chr4:g.654029_654039del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.654031_654041del , CM000666.2:g.654031_654041del	GRCh38
NC_000004.11:g.647820_647830del , CM000666.1:g.647820_647830del	GRCh37
NC_000004.10:g.637820_637830del	NCBI36
NG_009839.1:g.33458_33468del

Transcript Alleles

HGVS	Amino-acid change
ENST00000496514.6:c.852+39_853-39del (PDE6B) MANE Select	ENSP00000420295.1:n.852+39_853-39del
ENST00000255622.10:c.852+39_853-39del (PDE6B)	ENSP00000255622.6:n.852+39_853-39del
ENST00000429163.6:c.15+39_16-39del (PDE6B)	ENSP00000406334.2:n.15+39_16-39del
ENST00000465426.5:c.15+39_16-39del (PDE6B)	ENSP00000418454.1:n.15+39_16-39del
ENST00000467152.1:n.250+39_251-39del (PDE6B)
ENST00000474251.5:n.303+39_304-39del (PDE6B)
ENST00000476034.5:n.422+39_423-39del (PDE6B)
ENST00000487902.5:c.15+39_16-39del (PDE6B)	ENSP00000418256.1:n.15+39_16-39del
ENST00000488061.5:c.15+39_16-39del (PDE6B)	ENSP00000420228.1:n.15+39_16-39del
ENST00000496514.5:c.852+39_853-39del (PDE6B)	ENSP00000420295.1:n.852+39_853-39del
NM_000283.3:c.852+39_853-39del (PDE6B)	NP_000274.2:n.852+39_853-39del
NM_001145291.1:c.852+39_853-39del (PDE6B)	NP_001138763.1:n.852+39_853-39del
NM_001145292.1:c.15+39_16-39del (PDE6B)	NP_001138764.1:n.15+39_16-39del
XM_011513473.1:c.1071+39_1072-39del (PDE6B)	XP_011511775.1:n.1071+39_1072-39del
XM_011513474.1:c.1071+39_1072-39del (PDE6B)	XP_011511776.1:n.1071+39_1072-39del
XM_011513475.1:c.852+39_853-39del (PDE6B)	XP_011511777.1:n.852+39_853-39del
XM_011513476.1:c.1071+39_1072-39del (PDE6B)	XP_011511778.1:n.1071+39_1072-39del
XM_011513477.1:c.-546+39_-545-39del (PDE6B)	XP_011511779.1:n.-546+39_-545-39del
XM_011513478.1:c.-889+39_-888-39del (PDE6B)	XP_011511780.1:n.-889+39_-888-39del
XR_246615.2:n.1014+26_1014+36del (PDE6B-AS1)
XR_925030.1:n.866-68_866-58del (PDE6B-AS1)
NM_001350154.1:c.15+39_16-39del (PDE6B)	NP_001337083.1:n.15+39_16-39del
NM_001350155.1:c.-189+39_-188-39del (PDE6B)	NP_001337084.1:n.-189+39_-188-39del
XM_011513473.3:c.1071+39_1072-39del (PDE6B)	XP_011511775.1:n.1071+39_1072-39del
XM_011513474.3:c.1071+39_1072-39del (PDE6B)	XP_011511776.1:n.1071+39_1072-39del
XM_011513475.2:c.852+39_853-39del (PDE6B)	XP_011511777.1:n.852+39_853-39del
XM_011513476.3:c.1071+39_1072-39del (PDE6B)	XP_011511778.1:n.1071+39_1072-39del
XM_011513478.2:c.-889+39_-888-39del (PDE6B)	XP_011511780.1:n.-889+39_-888-39del
XM_017008284.1:c.15+39_16-39del (PDE6B)	XP_016863773.1:n.15+39_16-39del
XM_017008285.1:c.15+39_16-39del (PDE6B)	XP_016863774.1:n.15+39_16-39del
XM_017008286.1:c.15+39_16-39del (PDE6B)	XP_016863775.1:n.15+39_16-39del
XR_001741541.1:n.1108-68_1108-58del (PDE6B-AS1)
XR_246615.3:n.1256+26_1256+36del (PDE6B-AS1)
NM_001350154.2:c.15+39_16-39del (PDE6B)	NP_001337083.1:n.15+39_16-39del
NM_001350155.2:c.-189+39_-188-39del (PDE6B)	NP_001337084.1:n.-189+39_-188-39del
NM_000283.4:c.852+39_853-39del (PDE6B) MANE Select	NP_000274.3:n.852+39_853-39del
NM_001145291.2:c.852+39_853-39del (PDE6B)	NP_001138763.2:n.852+39_853-39del
NM_001145292.2:c.15+39_16-39del (PDE6B)	NP_001138764.2:n.15+39_16-39del
NM_001350154.3:c.15+39_16-39del (PDE6B)	NP_001337083.1:n.15+39_16-39del
NM_001350155.3:c.-189+39_-188-39del (PDE6B)	NP_001337084.1:n.-189+39_-188-39del
NM_001379246.1:c.15+39_16-39del (PDE6B)	NP_001366175.1:n.15+39_16-39del
NM_001379247.1:c.15+39_16-39del (PDE6B)	NP_001366176.1:n.15+39_16-39del