Canonical Allele Identifier: CA2669420407

Gene: PDE6B

Linked Data

• gnomAD v4: 4-665003-G-GAGGCTCCCGCCCGCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.665003_665004insAGGCTCCCGCCCGCCC , CM000666.2:g.665003_665004insAGGCTCCCGCCCGCCC	GRCh38
NC_000004.11:g.658792_658793insAGGCTCCCGCCCGCCC , CM000666.1:g.658792_658793insAGGCTCCCGCCCGCCC	GRCh37
NC_000004.10:g.648792_648793insAGGCTCCCGCCCGCCC	NCBI36
NG_009839.1:g.44430_44431insAGGCTCCCGCCCGCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.2193+59_2193+60insAGGCTCCCGCCCGCCC MANE Select	ENSP00000420295.1:n.2193+59_2193+60insAGGCTCCCGCCCGCCC
ENST00000255622.10:c.2193+59_2193+60insAGGCTCCCGCCCGCCC	ENSP00000255622.6:n.2193+59_2193+60insAGGCTCCCGCCCGCCC
ENST00000429163.6:c.1356+59_1356+60insAGGCTCCCGCCCGCCC	ENSP00000406334.2:n.1356+59_1356+60insAGGCTCCCGCCCGCCC
ENST00000461490.1:c.35+59_35+60insAGGCTCCCGCCCGCCC
ENST00000471824.6:c.273+59_273+60insAGGCTCCCGCCCGCCC	ENSP00000417852.2:n.273+59_273+60insAGGCTCCCGCCCGCCC
ENST00000496514.5:c.2193+59_2193+60insAGGCTCCCGCCCGCCC	ENSP00000420295.1:n.2193+59_2193+60insAGGCTCCCGCCCGCCC
NM_000283.3:c.2193+59_2193+60insAGGCTCCCGCCCGCCC	NP_000274.2:n.2193+59_2193+60insAGGCTCCCGCCCGCCC
NM_001145291.1:c.2193+59_2193+60insAGGCTCCCGCCCGCCC	NP_001138763.1:n.2193+59_2193+60insAGGCTCCCGCCCGCCC
NM_001145292.1:c.1356+59_1356+60insAGGCTCCCGCCCGCCC	NP_001138764.1:n.1356+59_1356+60insAGGCTCCCGCCCGCCC
XM_011513473.1:c.2412+59_2412+60insAGGCTCCCGCCCGCCC	XP_011511775.1:n.2412+59_2412+60insAGGCTCCCGCCCGCCC
XM_011513474.1:c.2412+59_2412+60insAGGCTCCCGCCCGCCC	XP_011511776.1:n.2412+59_2412+60insAGGCTCCCGCCCGCCC
XM_011513475.1:c.2193+59_2193+60insAGGCTCCCGCCCGCCC	XP_011511777.1:n.2193+59_2193+60insAGGCTCCCGCCCGCCC
XM_011513476.1:c.2412+59_2412+60insAGGCTCCCGCCCGCCC	XP_011511778.1:n.2412+59_2412+60insAGGCTCCCGCCCGCCC
XM_011513477.1:c.1398+59_1398+60insAGGCTCCCGCCCGCCC	XP_011511779.1:n.1398+59_1398+60insAGGCTCCCGCCCGCCC
XM_011513478.1:c.1122+59_1122+60insAGGCTCCCGCCCGCCC	XP_011511780.1:n.1122+59_1122+60insAGGCTCCCGCCCGCCC
NM_001350154.1:c.1356+59_1356+60insAGGCTCCCGCCCGCCC	NP_001337083.1:n.1356+59_1356+60insAGGCTCCCGCCCGCCC
NM_001350155.1:c.1038+59_1038+60insAGGCTCCCGCCCGCCC	NP_001337084.1:n.1038+59_1038+60insAGGCTCCCGCCCGCCC
XM_011513473.3:c.2412+59_2412+60insAGGCTCCCGCCCGCCC	XP_011511775.1:n.2412+59_2412+60insAGGCTCCCGCCCGCCC
XM_011513474.3:c.2412+59_2412+60insAGGCTCCCGCCCGCCC	XP_011511776.1:n.2412+59_2412+60insAGGCTCCCGCCCGCCC
XM_011513475.2:c.2193+59_2193+60insAGGCTCCCGCCCGCCC	XP_011511777.1:n.2193+59_2193+60insAGGCTCCCGCCCGCCC
XM_011513476.3:c.2412+59_2412+60insAGGCTCCCGCCCGCCC	XP_011511778.1:n.2412+59_2412+60insAGGCTCCCGCCCGCCC
XM_011513478.2:c.1122+59_1122+60insAGGCTCCCGCCCGCCC	XP_011511780.1:n.1122+59_1122+60insAGGCTCCCGCCCGCCC
XM_017008284.1:c.1356+59_1356+60insAGGCTCCCGCCCGCCC	XP_016863773.1:n.1356+59_1356+60insAGGCTCCCGCCCGCCC
XM_017008285.1:c.1356+59_1356+60insAGGCTCCCGCCCGCCC	XP_016863774.1:n.1356+59_1356+60insAGGCTCCCGCCCGCCC
XM_017008286.1:c.1356+59_1356+60insAGGCTCCCGCCCGCCC	XP_016863775.1:n.1356+59_1356+60insAGGCTCCCGCCCGCCC
NM_001350154.2:c.1356+59_1356+60insAGGCTCCCGCCCGCCC	NP_001337083.1:n.1356+59_1356+60insAGGCTCCCGCCCGCCC
NM_001350155.2:c.1038+59_1038+60insAGGCTCCCGCCCGCCC	NP_001337084.1:n.1038+59_1038+60insAGGCTCCCGCCCGCCC
NM_000283.4:c.2193+59_2193+60insAGGCTCCCGCCCGCCC MANE Select	NP_000274.3:n.2193+59_2193+60insAGGCTCCCGCCCGCCC
NM_001145291.2:c.2193+59_2193+60insAGGCTCCCGCCCGCCC	NP_001138763.2:n.2193+59_2193+60insAGGCTCCCGCCCGCCC
NM_001145292.2:c.1356+59_1356+60insAGGCTCCCGCCCGCCC	NP_001138764.2:n.1356+59_1356+60insAGGCTCCCGCCCGCCC
NM_001350154.3:c.1356+59_1356+60insAGGCTCCCGCCCGCCC	NP_001337083.1:n.1356+59_1356+60insAGGCTCCCGCCCGCCC
NM_001350155.3:c.1038+59_1038+60insAGGCTCCCGCCCGCCC	NP_001337084.1:n.1038+59_1038+60insAGGCTCCCGCCCGCCC
NM_001379246.1:c.1356+59_1356+60insAGGCTCCCGCCCGCCC	NP_001366175.1:n.1356+59_1356+60insAGGCTCCCGCCCGCCC
NM_001379247.1:c.1356+59_1356+60insAGGCTCCCGCCCGCCC	NP_001366176.1:n.1356+59_1356+60insAGGCTCCCGCCCGCCC