Canonical Allele Identifier: CA805546412

Gene: PDE6A

Linked Data

• ClinVar Variation Id: 1937843
• ClinVar RCV Id: RCV002662329
• dbSNP Id: rs1477314740
• gnomAD v3: 5-149898410-C-CT
• gnomAD v4: 5-149898410-C-CT
• MyVariant Identifiers: chr5:g.149277973_149277974insT (hg19) ; chr5:g.149898410_149898411insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149898411dup , CM000667.2:g.149898411dup	GRCh38
NC_000005.9:g.149277974dup , CM000667.1:g.149277974dup	GRCh37
NC_000005.8:g.149258167dup	NCBI36
NG_009102.1:g.51383dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000255266.10:c.1359dup MANE Select	ENSP00000255266.5:p.Val454SerfsTer8
ENST00000255266.9:c.1359dup	ENSP00000255266.5:p.Val454SerfsTer8
ENST00000508173.5:n.1383+964dup
ENST00000613228.1:c.1116dup	ENSP00000478060.1:p.Val373SerfsTer8
ENST00000617647.4:c.1116dup	ENSP00000482774.1:p.Val373SerfsTer8
NM_000440.2:c.1359dup	NP_000431.2:p.Val454SerfsTer8
XM_011537648.1:c.1359dup	XP_011535950.1:p.Val454SerfsTer8
XM_011537649.1:c.813dup	XP_011535951.1:p.Val272SerfsTer8
XM_011537650.1:c.474dup	XP_011535952.1:p.Val159SerfsTer8
XM_011537651.1:c.312dup	XP_011535953.1:p.Val105SerfsTer8
XM_011537652.1:c.282dup	XP_011535954.1:p.Val95SerfsTer8
XM_011537653.1:c.282dup	XP_011535955.1:p.Val95SerfsTer8
XM_011537654.1:c.282dup	XP_011535956.1:p.Val95SerfsTer8
XM_011537650.2:c.474dup	XP_011535952.1:p.Val159SerfsTer8
XM_011537651.2:c.312dup	XP_011535953.1:p.Val105SerfsTer8
XM_011537653.2:c.282dup	XP_011535955.1:p.Val95SerfsTer8
XM_011537654.2:c.282dup	XP_011535956.1:p.Val95SerfsTer8
XM_017009572.2:c.1116dup	XP_016865061.1:p.Val373SerfsTer8
NM_000440.3:c.1359dup MANE Select	NP_000431.2:p.Val454SerfsTer8