Canonical Allele Identifier: CA563559943

Gene: PDE6A

Linked Data

• dbSNP Id: rs1184400800
• gnomAD v2: 5-149276248-G-GCTC
• gnomAD v3: 5-149896685-G-GCTC
• gnomAD v4: 5-149896685-G-GCTC
• MyVariant Identifiers: chr5:g.149276248_149276249insCTC (hg19) ; chr5:g.149896685_149896686insCTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149896686_149896688dup , CM000667.2:g.149896686_149896688dup	GRCh38
NC_000005.9:g.149276249_149276251dup , CM000667.1:g.149276249_149276251dup	GRCh37
NC_000005.8:g.149256442_149256444dup	NCBI36
NG_009102.1:g.53106_53108dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000255266.10:c.1473+23_1473+25dup MANE Select	ENSP00000255266.5:n.1473+23_1473+25dup
ENST00000255266.9:c.1473+23_1473+25dup	ENSP00000255266.5:n.1473+23_1473+25dup
ENST00000508173.5:n.1472_1474dup
ENST00000613228.1:c.1230+23_1230+25dup	ENSP00000478060.1:n.1230+23_1230+25dup
ENST00000617647.4:c.1230+23_1230+25dup	ENSP00000482774.1:n.1230+23_1230+25dup
NM_000440.2:c.1473+23_1473+25dup	NP_000431.2:n.1473+23_1473+25dup
XM_011537648.1:c.1473+23_1473+25dup	XP_011535950.1:n.1473+23_1473+25dup
XM_011537649.1:c.927+23_927+25dup	XP_011535951.1:n.927+23_927+25dup
XM_011537650.1:c.588+23_588+25dup	XP_011535952.1:n.588+23_588+25dup
XM_011537651.1:c.426+23_426+25dup	XP_011535953.1:n.426+23_426+25dup
XM_011537652.1:c.396+23_396+25dup	XP_011535954.1:n.396+23_396+25dup
XM_011537653.1:c.396+23_396+25dup	XP_011535955.1:n.396+23_396+25dup
XM_011537654.1:c.396+23_396+25dup	XP_011535956.1:n.396+23_396+25dup
XM_011537650.2:c.588+23_588+25dup	XP_011535952.1:n.588+23_588+25dup
XM_011537651.2:c.426+23_426+25dup	XP_011535953.1:n.426+23_426+25dup
XM_011537653.2:c.396+23_396+25dup	XP_011535955.1:n.396+23_396+25dup
XM_011537654.2:c.396+23_396+25dup	XP_011535956.1:n.396+23_396+25dup
XM_017009572.2:c.1230+23_1230+25dup	XP_016865061.1:n.1230+23_1230+25dup
NM_000440.3:c.1473+23_1473+25dup MANE Select	NP_000431.2:n.1473+23_1473+25dup