Canonical Allele Identifier: CA1432853680

Gene: PDE6B

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.664670_664671delinsGC , CM000666.2:g.664670_664671delinsGC	GRCh38
NC_000004.11:g.658459_658460delinsGC , CM000666.1:g.658459_658460delinsGC	GRCh37
NC_000004.10:g.648459_648460delinsGC	NCBI36
NG_009839.1:g.44097_44098delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.2130-211_2130-210delinsGC MANE Select	ENSP00000420295.1:n.2130-211_2130-210delinsGC
ENST00000255622.10:c.2130-211_2130-210delinsGC	ENSP00000255622.6:n.2130-211_2130-210delinsGC
ENST00000429163.6:c.1293-211_1293-210delinsGC	ENSP00000406334.2:n.1293-211_1293-210delinsGC
ENST00000460119.1:n.500-211_500-210delinsGC
ENST00000471824.6:c.210-211_210-210delinsGC	ENSP00000417852.2:n.210-211_210-210delinsGC
ENST00000496514.5:c.2130-211_2130-210delinsGC	ENSP00000420295.1:n.2130-211_2130-210delinsGC
NM_000283.3:c.2130-211_2130-210delinsGC	NP_000274.2:n.2130-211_2130-210delinsGC
NM_001145291.1:c.2130-211_2130-210delinsGC	NP_001138763.1:n.2130-211_2130-210delinsGC
NM_001145292.1:c.1293-211_1293-210delinsGC	NP_001138764.1:n.1293-211_1293-210delinsGC
XM_011513473.1:c.2349-211_2349-210delinsGC	XP_011511775.1:n.2349-211_2349-210delinsGC
XM_011513474.1:c.2349-211_2349-210delinsGC	XP_011511776.1:n.2349-211_2349-210delinsGC
XM_011513475.1:c.2130-211_2130-210delinsGC	XP_011511777.1:n.2130-211_2130-210delinsGC
XM_011513476.1:c.2349-211_2349-210delinsGC	XP_011511778.1:n.2349-211_2349-210delinsGC
XM_011513477.1:c.1335-211_1335-210delinsGC	XP_011511779.1:n.1335-211_1335-210delinsGC
XM_011513478.1:c.1059-211_1059-210delinsGC	XP_011511780.1:n.1059-211_1059-210delinsGC
NM_001350154.1:c.1293-211_1293-210delinsGC	NP_001337083.1:n.1293-211_1293-210delinsGC
NM_001350155.1:c.975-211_975-210delinsGC	NP_001337084.1:n.975-211_975-210delinsGC
XM_011513473.3:c.2349-211_2349-210delinsGC	XP_011511775.1:n.2349-211_2349-210delinsGC
XM_011513474.3:c.2349-211_2349-210delinsGC	XP_011511776.1:n.2349-211_2349-210delinsGC
XM_011513475.2:c.2130-211_2130-210delinsGC	XP_011511777.1:n.2130-211_2130-210delinsGC
XM_011513476.3:c.2349-211_2349-210delinsGC	XP_011511778.1:n.2349-211_2349-210delinsGC
XM_011513478.2:c.1059-211_1059-210delinsGC	XP_011511780.1:n.1059-211_1059-210delinsGC
XM_017008284.1:c.1293-211_1293-210delinsGC	XP_016863773.1:n.1293-211_1293-210delinsGC
XM_017008285.1:c.1293-211_1293-210delinsGC	XP_016863774.1:n.1293-211_1293-210delinsGC
XM_017008286.1:c.1293-211_1293-210delinsGC	XP_016863775.1:n.1293-211_1293-210delinsGC
NM_001350154.2:c.1293-211_1293-210delinsGC	NP_001337083.1:n.1293-211_1293-210delinsGC
NM_001350155.2:c.975-211_975-210delinsGC	NP_001337084.1:n.975-211_975-210delinsGC
NM_000283.4:c.2130-211_2130-210delinsGC MANE Select	NP_000274.3:n.2130-211_2130-210delinsGC
NM_001145291.2:c.2130-211_2130-210delinsGC	NP_001138763.2:n.2130-211_2130-210delinsGC
NM_001145292.2:c.1293-211_1293-210delinsGC	NP_001138764.2:n.1293-211_1293-210delinsGC
NM_001350154.3:c.1293-211_1293-210delinsGC	NP_001337083.1:n.1293-211_1293-210delinsGC
NM_001350155.3:c.975-211_975-210delinsGC	NP_001337084.1:n.975-211_975-210delinsGC
NM_001379246.1:c.1293-211_1293-210delinsGC	NP_001366175.1:n.1293-211_1293-210delinsGC
NM_001379247.1:c.1293-211_1293-210delinsGC	NP_001366176.1:n.1293-211_1293-210delinsGC