Canonical Allele Identifier: CA549126506

Gene: PDE6B

Linked Data

• dbSNP Id: rs1560136511
• gnomAD v2: 4-658477-C-CAT
• gnomAD v3: 4-664688-C-CAT
• gnomAD v4: 4-664688-C-CAT
• MyVariant Identifiers: chr4:g.658477_658478insAT (hg19) ; chr4:g.664688_664689insAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.664688_664689insAT , CM000666.2:g.664688_664689insAT	GRCh38
NC_000004.11:g.658477_658478insAT , CM000666.1:g.658477_658478insAT	GRCh37
NC_000004.10:g.648477_648478insAT	NCBI36
NG_009839.1:g.44115_44116insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.2130-193_2130-192insAT MANE Select	ENSP00000420295.1:n.2130-193_2130-192insAT
ENST00000255622.10:c.2130-193_2130-192insAT	ENSP00000255622.6:n.2130-193_2130-192insAT
ENST00000429163.6:c.1293-193_1293-192insAT	ENSP00000406334.2:n.1293-193_1293-192insAT
ENST00000460119.1:n.500-193_500-192insAT
ENST00000471824.6:c.210-193_210-192insAT	ENSP00000417852.2:n.210-193_210-192insAT
ENST00000496514.5:c.2130-193_2130-192insAT	ENSP00000420295.1:n.2130-193_2130-192insAT
NM_000283.3:c.2130-193_2130-192insAT	NP_000274.2:n.2130-193_2130-192insAT
NM_001145291.1:c.2130-193_2130-192insAT	NP_001138763.1:n.2130-193_2130-192insAT
NM_001145292.1:c.1293-193_1293-192insAT	NP_001138764.1:n.1293-193_1293-192insAT
XM_011513473.1:c.2349-193_2349-192insAT	XP_011511775.1:n.2349-193_2349-192insAT
XM_011513474.1:c.2349-193_2349-192insAT	XP_011511776.1:n.2349-193_2349-192insAT
XM_011513475.1:c.2130-193_2130-192insAT	XP_011511777.1:n.2130-193_2130-192insAT
XM_011513476.1:c.2349-193_2349-192insAT	XP_011511778.1:n.2349-193_2349-192insAT
XM_011513477.1:c.1335-193_1335-192insAT	XP_011511779.1:n.1335-193_1335-192insAT
XM_011513478.1:c.1059-193_1059-192insAT	XP_011511780.1:n.1059-193_1059-192insAT
NM_001350154.1:c.1293-193_1293-192insAT	NP_001337083.1:n.1293-193_1293-192insAT
NM_001350155.1:c.975-193_975-192insAT	NP_001337084.1:n.975-193_975-192insAT
XM_011513473.3:c.2349-193_2349-192insAT	XP_011511775.1:n.2349-193_2349-192insAT
XM_011513474.3:c.2349-193_2349-192insAT	XP_011511776.1:n.2349-193_2349-192insAT
XM_011513475.2:c.2130-193_2130-192insAT	XP_011511777.1:n.2130-193_2130-192insAT
XM_011513476.3:c.2349-193_2349-192insAT	XP_011511778.1:n.2349-193_2349-192insAT
XM_011513478.2:c.1059-193_1059-192insAT	XP_011511780.1:n.1059-193_1059-192insAT
XM_017008284.1:c.1293-193_1293-192insAT	XP_016863773.1:n.1293-193_1293-192insAT
XM_017008285.1:c.1293-193_1293-192insAT	XP_016863774.1:n.1293-193_1293-192insAT
XM_017008286.1:c.1293-193_1293-192insAT	XP_016863775.1:n.1293-193_1293-192insAT
NM_001350154.2:c.1293-193_1293-192insAT	NP_001337083.1:n.1293-193_1293-192insAT
NM_001350155.2:c.975-193_975-192insAT	NP_001337084.1:n.975-193_975-192insAT
NM_000283.4:c.2130-193_2130-192insAT MANE Select	NP_000274.3:n.2130-193_2130-192insAT
NM_001145291.2:c.2130-193_2130-192insAT	NP_001138763.2:n.2130-193_2130-192insAT
NM_001145292.2:c.1293-193_1293-192insAT	NP_001138764.2:n.1293-193_1293-192insAT
NM_001350154.3:c.1293-193_1293-192insAT	NP_001337083.1:n.1293-193_1293-192insAT
NM_001350155.3:c.975-193_975-192insAT	NP_001337084.1:n.975-193_975-192insAT
NM_001379246.1:c.1293-193_1293-192insAT	NP_001366175.1:n.1293-193_1293-192insAT
NM_001379247.1:c.1293-193_1293-192insAT	NP_001366176.1:n.1293-193_1293-192insAT