Canonical Allele Identifier: CA1432854579

Gene: PDE6B

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.665038_665039delinsGT , CM000666.2:g.665038_665039delinsGT	GRCh38
NC_000004.11:g.658827_658828delinsGT , CM000666.1:g.658827_658828delinsGT	GRCh37
NC_000004.10:g.648827_648828delinsGT	NCBI36
NG_009839.1:g.44465_44466delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.2193+94_2193+95delinsGT MANE Select	ENSP00000420295.1:n.2193+94_2193+95delinsGT
ENST00000255622.10:c.2193+94_2193+95delinsGT	ENSP00000255622.6:n.2193+94_2193+95delinsGT
ENST00000429163.6:c.1356+94_1356+95delinsGT	ENSP00000406334.2:n.1356+94_1356+95delinsGT
ENST00000461490.1:c.35+94_35+95delinsGT
ENST00000471824.6:c.273+94_273+95delinsGT	ENSP00000417852.2:n.273+94_273+95delinsGT
ENST00000496514.5:c.2193+94_2193+95delinsGT	ENSP00000420295.1:n.2193+94_2193+95delinsGT
NM_000283.3:c.2193+94_2193+95delinsGT	NP_000274.2:n.2193+94_2193+95delinsGT
NM_001145291.1:c.2193+94_2193+95delinsGT	NP_001138763.1:n.2193+94_2193+95delinsGT
NM_001145292.1:c.1356+94_1356+95delinsGT	NP_001138764.1:n.1356+94_1356+95delinsGT
XM_011513473.1:c.2412+94_2412+95delinsGT	XP_011511775.1:n.2412+94_2412+95delinsGT
XM_011513474.1:c.2412+94_2412+95delinsGT	XP_011511776.1:n.2412+94_2412+95delinsGT
XM_011513475.1:c.2193+94_2193+95delinsGT	XP_011511777.1:n.2193+94_2193+95delinsGT
XM_011513476.1:c.2412+94_2412+95delinsGT	XP_011511778.1:n.2412+94_2412+95delinsGT
XM_011513477.1:c.1398+94_1398+95delinsGT	XP_011511779.1:n.1398+94_1398+95delinsGT
XM_011513478.1:c.1122+94_1122+95delinsGT	XP_011511780.1:n.1122+94_1122+95delinsGT
NM_001350154.1:c.1356+94_1356+95delinsGT	NP_001337083.1:n.1356+94_1356+95delinsGT
NM_001350155.1:c.1038+94_1038+95delinsGT	NP_001337084.1:n.1038+94_1038+95delinsGT
XM_011513473.3:c.2412+94_2412+95delinsGT	XP_011511775.1:n.2412+94_2412+95delinsGT
XM_011513474.3:c.2412+94_2412+95delinsGT	XP_011511776.1:n.2412+94_2412+95delinsGT
XM_011513475.2:c.2193+94_2193+95delinsGT	XP_011511777.1:n.2193+94_2193+95delinsGT
XM_011513476.3:c.2412+94_2412+95delinsGT	XP_011511778.1:n.2412+94_2412+95delinsGT
XM_011513478.2:c.1122+94_1122+95delinsGT	XP_011511780.1:n.1122+94_1122+95delinsGT
XM_017008284.1:c.1356+94_1356+95delinsGT	XP_016863773.1:n.1356+94_1356+95delinsGT
XM_017008285.1:c.1356+94_1356+95delinsGT	XP_016863774.1:n.1356+94_1356+95delinsGT
XM_017008286.1:c.1356+94_1356+95delinsGT	XP_016863775.1:n.1356+94_1356+95delinsGT
NM_001350154.2:c.1356+94_1356+95delinsGT	NP_001337083.1:n.1356+94_1356+95delinsGT
NM_001350155.2:c.1038+94_1038+95delinsGT	NP_001337084.1:n.1038+94_1038+95delinsGT
NM_000283.4:c.2193+94_2193+95delinsGT MANE Select	NP_000274.3:n.2193+94_2193+95delinsGT
NM_001145291.2:c.2193+94_2193+95delinsGT	NP_001138763.2:n.2193+94_2193+95delinsGT
NM_001145292.2:c.1356+94_1356+95delinsGT	NP_001138764.2:n.1356+94_1356+95delinsGT
NM_001350154.3:c.1356+94_1356+95delinsGT	NP_001337083.1:n.1356+94_1356+95delinsGT
NM_001350155.3:c.1038+94_1038+95delinsGT	NP_001337084.1:n.1038+94_1038+95delinsGT
NM_001379246.1:c.1356+94_1356+95delinsGT	NP_001366175.1:n.1356+94_1356+95delinsGT
NM_001379247.1:c.1356+94_1356+95delinsGT	NP_001366176.1:n.1356+94_1356+95delinsGT