Canonical Allele Identifier: CA2760112041

Gene: PDE6B

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.665097_665098insAGT , CM000666.2:g.665097_665098insAGT	GRCh38
NC_000004.11:g.658886_658887insAGT , CM000666.1:g.658886_658887insAGT	GRCh37
NC_000004.10:g.648886_648887insAGT	NCBI36
NG_009839.1:g.44524_44525insAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.2193+153_2193+154insAGT MANE Select	ENSP00000420295.1:n.2193+153_2193+154insAGT
ENST00000255622.10:c.2193+153_2193+154insAGT	ENSP00000255622.6:n.2193+153_2193+154insAGT
ENST00000429163.6:c.1356+153_1356+154insAGT	ENSP00000406334.2:n.1356+153_1356+154insAGT
ENST00000461490.1:c.35+153_35+154insAGT
ENST00000471824.6:c.273+153_273+154insAGT	ENSP00000417852.2:n.273+153_273+154insAGT
ENST00000496514.5:c.2193+153_2193+154insAGT	ENSP00000420295.1:n.2193+153_2193+154insAGT
NM_000283.3:c.2193+153_2193+154insAGT	NP_000274.2:n.2193+153_2193+154insAGT
NM_001145291.1:c.2193+153_2193+154insAGT	NP_001138763.1:n.2193+153_2193+154insAGT
NM_001145292.1:c.1356+153_1356+154insAGT	NP_001138764.1:n.1356+153_1356+154insAGT
XM_011513473.1:c.2412+153_2412+154insAGT	XP_011511775.1:n.2412+153_2412+154insAGT
XM_011513474.1:c.2412+153_2412+154insAGT	XP_011511776.1:n.2412+153_2412+154insAGT
XM_011513475.1:c.2193+153_2193+154insAGT	XP_011511777.1:n.2193+153_2193+154insAGT
XM_011513476.1:c.2412+153_2412+154insAGT	XP_011511778.1:n.2412+153_2412+154insAGT
XM_011513477.1:c.1398+153_1398+154insAGT	XP_011511779.1:n.1398+153_1398+154insAGT
XM_011513478.1:c.1122+153_1122+154insAGT	XP_011511780.1:n.1122+153_1122+154insAGT
NM_001350154.1:c.1356+153_1356+154insAGT	NP_001337083.1:n.1356+153_1356+154insAGT
NM_001350155.1:c.1038+153_1038+154insAGT	NP_001337084.1:n.1038+153_1038+154insAGT
XM_011513473.3:c.2412+153_2412+154insAGT	XP_011511775.1:n.2412+153_2412+154insAGT
XM_011513474.3:c.2412+153_2412+154insAGT	XP_011511776.1:n.2412+153_2412+154insAGT
XM_011513475.2:c.2193+153_2193+154insAGT	XP_011511777.1:n.2193+153_2193+154insAGT
XM_011513476.3:c.2412+153_2412+154insAGT	XP_011511778.1:n.2412+153_2412+154insAGT
XM_011513478.2:c.1122+153_1122+154insAGT	XP_011511780.1:n.1122+153_1122+154insAGT
XM_017008284.1:c.1356+153_1356+154insAGT	XP_016863773.1:n.1356+153_1356+154insAGT
XM_017008285.1:c.1356+153_1356+154insAGT	XP_016863774.1:n.1356+153_1356+154insAGT
XM_017008286.1:c.1356+153_1356+154insAGT	XP_016863775.1:n.1356+153_1356+154insAGT
NM_001350154.2:c.1356+153_1356+154insAGT	NP_001337083.1:n.1356+153_1356+154insAGT
NM_001350155.2:c.1038+153_1038+154insAGT	NP_001337084.1:n.1038+153_1038+154insAGT
NM_000283.4:c.2193+153_2193+154insAGT MANE Select	NP_000274.3:n.2193+153_2193+154insAGT
NM_001145291.2:c.2193+153_2193+154insAGT	NP_001138763.2:n.2193+153_2193+154insAGT
NM_001145292.2:c.1356+153_1356+154insAGT	NP_001138764.2:n.1356+153_1356+154insAGT
NM_001350154.3:c.1356+153_1356+154insAGT	NP_001337083.1:n.1356+153_1356+154insAGT
NM_001350155.3:c.1038+153_1038+154insAGT	NP_001337084.1:n.1038+153_1038+154insAGT
NM_001379246.1:c.1356+153_1356+154insAGT	NP_001366175.1:n.1356+153_1356+154insAGT
NM_001379247.1:c.1356+153_1356+154insAGT	NP_001366176.1:n.1356+153_1356+154insAGT