Canonical Allele Identifier: CA2794554

Gene: PDE6B

Linked Data

• dbSNP Id: rs754365188
• ExAC: 4:654256 AAGG / A
• gnomAD v2: 4-654256-AAGG-A
• gnomAD v4: 4-660467-AAGG-A
• MyVariant Identifiers: chr4:g.654257_654259del (hg19) ; chr4:g.660468_660470del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.660473_660475del , CM000666.2:g.660473_660475del	GRCh38
NC_000004.11:g.654262_654264del , CM000666.1:g.654262_654264del	GRCh37
NC_000004.10:g.644262_644264del	NCBI36
NG_009839.1:g.39900_39902del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.1474_1476del MANE Select	ENSP00000420295.1:p.Glu492del
ENST00000255622.10:c.1474_1476del	ENSP00000255622.6:p.Glu492del
ENST00000429163.6:c.637_639del	ENSP00000406334.2:p.Glu213del
ENST00000496514.5:c.1474_1476del	ENSP00000420295.1:p.Glu492del
NM_000283.3:c.1474_1476del	NP_000274.2:p.Glu492del
NM_001145291.1:c.1474_1476del	NP_001138763.1:p.Glu492del
NM_001145292.1:c.637_639del	NP_001138764.1:p.Glu213del
XM_011513473.1:c.1693_1695del	XP_011511775.1:p.Glu565del
XM_011513474.1:c.1693_1695del	XP_011511776.1:p.Glu565del
XM_011513475.1:c.1474_1476del	XP_011511777.1:p.Glu492del
XM_011513476.1:c.1693_1695del	XP_011511778.1:p.Glu565del
XM_011513477.1:c.679_681del	XP_011511779.1:p.Glu227del
XM_011513478.1:c.403_405del	XP_011511780.1:p.Glu135del
NM_001350154.1:c.637_639del	NP_001337083.1:p.Glu213del
NM_001350155.1:c.319_321del	NP_001337084.1:p.Glu107del
XM_011513473.3:c.1693_1695del	XP_011511775.1:p.Glu565del
XM_011513474.3:c.1693_1695del	XP_011511776.1:p.Glu565del
XM_011513475.2:c.1474_1476del	XP_011511777.1:p.Glu492del
XM_011513476.3:c.1693_1695del	XP_011511778.1:p.Glu565del
XM_011513478.2:c.403_405del	XP_011511780.1:p.Glu135del
XM_017008284.1:c.637_639del	XP_016863773.1:p.Glu213del
XM_017008285.1:c.637_639del	XP_016863774.1:p.Glu213del
XM_017008286.1:c.637_639del	XP_016863775.1:p.Glu213del
NM_001350154.2:c.637_639del	NP_001337083.1:p.Glu213del
NM_001350155.2:c.319_321del	NP_001337084.1:p.Glu107del
NM_000283.4:c.1474_1476del MANE Select	NP_000274.3:p.Glu492del
NM_001145291.2:c.1474_1476del	NP_001138763.2:p.Glu492del
NM_001145292.2:c.637_639del	NP_001138764.2:p.Glu213del
NM_001350154.3:c.637_639del	NP_001337083.1:p.Glu213del
NM_001350155.3:c.319_321del	NP_001337084.1:p.Glu107del
NM_001379246.1:c.637_639del	NP_001366175.1:p.Glu213del
NM_001379247.1:c.637_639del	NP_001366176.1:p.Glu213del