Canonical Allele Identifier: CA1432853648

Gene: PDE6B

Linked Data

• dbSNP Id: rs1737571005

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.664653_664658del , CM000666.2:g.664653_664658del	GRCh38
NC_000004.11:g.658442_658447del , CM000666.1:g.658442_658447del	GRCh37
NC_000004.10:g.648442_648447del	NCBI36
NG_009839.1:g.44080_44085del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.2130-228_2130-223del MANE Select	ENSP00000420295.1:n.2130-228_2130-223del
ENST00000255622.10:c.2130-228_2130-223del	ENSP00000255622.6:n.2130-228_2130-223del
ENST00000429163.6:c.1293-228_1293-223del	ENSP00000406334.2:n.1293-228_1293-223del
ENST00000460119.1:n.500-228_500-223del
ENST00000471824.6:c.210-228_210-223del	ENSP00000417852.2:n.210-228_210-223del
ENST00000496514.5:c.2130-228_2130-223del	ENSP00000420295.1:n.2130-228_2130-223del
NM_000283.3:c.2130-228_2130-223del	NP_000274.2:n.2130-228_2130-223del
NM_001145291.1:c.2130-228_2130-223del	NP_001138763.1:n.2130-228_2130-223del
NM_001145292.1:c.1293-228_1293-223del	NP_001138764.1:n.1293-228_1293-223del
XM_011513473.1:c.2349-228_2349-223del	XP_011511775.1:n.2349-228_2349-223del
XM_011513474.1:c.2349-228_2349-223del	XP_011511776.1:n.2349-228_2349-223del
XM_011513475.1:c.2130-228_2130-223del	XP_011511777.1:n.2130-228_2130-223del
XM_011513476.1:c.2349-228_2349-223del	XP_011511778.1:n.2349-228_2349-223del
XM_011513477.1:c.1335-228_1335-223del	XP_011511779.1:n.1335-228_1335-223del
XM_011513478.1:c.1059-228_1059-223del	XP_011511780.1:n.1059-228_1059-223del
NM_001350154.1:c.1293-228_1293-223del	NP_001337083.1:n.1293-228_1293-223del
NM_001350155.1:c.975-228_975-223del	NP_001337084.1:n.975-228_975-223del
XM_011513473.3:c.2349-228_2349-223del	XP_011511775.1:n.2349-228_2349-223del
XM_011513474.3:c.2349-228_2349-223del	XP_011511776.1:n.2349-228_2349-223del
XM_011513475.2:c.2130-228_2130-223del	XP_011511777.1:n.2130-228_2130-223del
XM_011513476.3:c.2349-228_2349-223del	XP_011511778.1:n.2349-228_2349-223del
XM_011513478.2:c.1059-228_1059-223del	XP_011511780.1:n.1059-228_1059-223del
XM_017008284.1:c.1293-228_1293-223del	XP_016863773.1:n.1293-228_1293-223del
XM_017008285.1:c.1293-228_1293-223del	XP_016863774.1:n.1293-228_1293-223del
XM_017008286.1:c.1293-228_1293-223del	XP_016863775.1:n.1293-228_1293-223del
NM_001350154.2:c.1293-228_1293-223del	NP_001337083.1:n.1293-228_1293-223del
NM_001350155.2:c.975-228_975-223del	NP_001337084.1:n.975-228_975-223del
NM_000283.4:c.2130-228_2130-223del MANE Select	NP_000274.3:n.2130-228_2130-223del
NM_001145291.2:c.2130-228_2130-223del	NP_001138763.2:n.2130-228_2130-223del
NM_001145292.2:c.1293-228_1293-223del	NP_001138764.2:n.1293-228_1293-223del
NM_001350154.3:c.1293-228_1293-223del	NP_001337083.1:n.1293-228_1293-223del
NM_001350155.3:c.975-228_975-223del	NP_001337084.1:n.975-228_975-223del
NM_001379246.1:c.1293-228_1293-223del	NP_001366175.1:n.1293-228_1293-223del
NM_001379247.1:c.1293-228_1293-223del	NP_001366176.1:n.1293-228_1293-223del