Canonical Allele Identifier: CA2675941439

Gene: PDE6A

Linked Data

• gnomAD v4: 5-149896608-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149896611_149896612del , CM000667.2:g.149896611_149896612del	GRCh38
NC_000005.9:g.149276174_149276175del , CM000667.1:g.149276174_149276175del	GRCh37
NC_000005.8:g.149256367_149256368del	NCBI36
NG_009102.1:g.53184_53185del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.1473+101_1473+102del MANE Select	ENSP00000255266.5:n.1473+101_1473+102del
ENST00000255266.9:c.1473+101_1473+102del	ENSP00000255266.5:n.1473+101_1473+102del
ENST00000508173.5:n.1550_1551del
ENST00000613228.1:c.1230+101_1230+102del	ENSP00000478060.1:n.1230+101_1230+102del
ENST00000617647.4:c.1230+101_1230+102del	ENSP00000482774.1:n.1230+101_1230+102del
NM_000440.2:c.1473+101_1473+102del	NP_000431.2:n.1473+101_1473+102del
XM_011537648.1:c.1473+101_1473+102del	XP_011535950.1:n.1473+101_1473+102del
XM_011537649.1:c.927+101_927+102del	XP_011535951.1:n.927+101_927+102del
XM_011537650.1:c.588+101_588+102del	XP_011535952.1:n.588+101_588+102del
XM_011537651.1:c.426+101_426+102del	XP_011535953.1:n.426+101_426+102del
XM_011537652.1:c.396+101_396+102del	XP_011535954.1:n.396+101_396+102del
XM_011537653.1:c.396+101_396+102del	XP_011535955.1:n.396+101_396+102del
XM_011537654.1:c.396+101_396+102del	XP_011535956.1:n.396+101_396+102del
XM_011537650.2:c.588+101_588+102del	XP_011535952.1:n.588+101_588+102del
XM_011537651.2:c.426+101_426+102del	XP_011535953.1:n.426+101_426+102del
XM_011537653.2:c.396+101_396+102del	XP_011535955.1:n.396+101_396+102del
XM_011537654.2:c.396+101_396+102del	XP_011535956.1:n.396+101_396+102del
XM_017009572.2:c.1230+101_1230+102del	XP_016865061.1:n.1230+101_1230+102del
NM_000440.3:c.1473+101_1473+102del MANE Select	NP_000431.2:n.1473+101_1473+102del