Canonical Allele Identifier: CA2586973506

Gene: PDE6B

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.664945del , CM000666.2:g.664945del	GRCh38
NC_000004.11:g.658734del , CM000666.1:g.658734del	GRCh37
NC_000004.10:g.648734del	NCBI36
NG_009839.1:g.44372del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.2193+1del
ENST00000255622.10:c.2193+1del
ENST00000429163.6:c.1356+1del
ENST00000461490.1:c.35+1del
ENST00000471824.6:c.273+1del
ENST00000496514.5:c.2193+1del
NM_000283.3:c.2193+1del
NM_001145291.1:c.2193+1del
NM_001145292.1:c.1356+1del
XM_011513473.1:c.2412+1del
XM_011513474.1:c.2412+1del
XM_011513475.1:c.2193+1del
XM_011513476.1:c.2412+1del
XM_011513477.1:c.1398+1del
XM_011513478.1:c.1122+1del
NM_001350154.1:c.1356+1del
NM_001350155.1:c.1038+1del
XM_011513473.3:c.2412+1del
XM_011513474.3:c.2412+1del
XM_011513475.2:c.2193+1del
XM_011513476.3:c.2412+1del
XM_011513478.2:c.1122+1del
XM_017008284.1:c.1356+1del
XM_017008285.1:c.1356+1del
XM_017008286.1:c.1356+1del
NM_001350154.2:c.1356+1del
NM_001350155.2:c.1038+1del
NM_000283.4:c.2193+1del
NM_001145291.2:c.2193+1del
NM_001145292.2:c.1356+1del
NM_001350154.3:c.1356+1del
NM_001350155.3:c.1038+1del
NM_001379246.1:c.1356+1del
NM_001379247.1:c.1356+1del