Canonical Allele Identifier: CA3504582

Gene: PDE6A

Linked Data

• dbSNP Id: rs764377654
• ExAC: 5:149274760 A / ATCTGCCC
• gnomAD v2: 5-149274760-A-ATCTGCCC
• MyVariant Identifiers: chr5:g.149274760_149274761insTCTGCCC (hg19) ; chr5:g.149895197_149895198insTCTGCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149895197_149895198insTCTGCCC , CM000667.2:g.149895197_149895198insTCTGCCC	GRCh38
NC_000005.9:g.149274760_149274761insTCTGCCC , CM000667.1:g.149274760_149274761insTCTGCCC	GRCh37
NC_000005.8:g.149254953_149254954insTCTGCCC	NCBI36
NG_009102.1:g.54596_54597insGGGCAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.1713_1714insGGGCAGA MANE Select	ENSP00000255266.5:p.Phe572GlyfsTer31
ENST00000255266.9:c.1713_1714insGGGCAGA	ENSP00000255266.5:p.Phe572GlyfsTer31
ENST00000508173.5:n.1897_1898insGGGCAGA
ENST00000613228.1:c.1470_1471insGGGCAGA	ENSP00000478060.1:p.Phe491GlyfsTer31
ENST00000617647.4:c.1470_1471insGGGCAGA	ENSP00000482774.1:p.Phe491GlyfsTer31
NM_000440.2:c.1713_1714insGGGCAGA	NP_000431.2:p.Phe572GlyfsTer31
XM_011537648.1:c.1713_1714insGGGCAGA	XP_011535950.1:p.Phe572GlyfsTer31
XM_011537649.1:c.1167_1168insGGGCAGA	XP_011535951.1:p.Phe390GlyfsTer31
XM_011537650.1:c.828_829insGGGCAGA	XP_011535952.1:p.Phe277GlyfsTer31
XM_011537651.1:c.666_667insGGGCAGA	XP_011535953.1:p.Phe223GlyfsTer31
XM_011537652.1:c.636_637insGGGCAGA	XP_011535954.1:p.Phe213GlyfsTer31
XM_011537653.1:c.636_637insGGGCAGA	XP_011535955.1:p.Phe213GlyfsTer31
XM_011537654.1:c.636_637insGGGCAGA	XP_011535956.1:p.Phe213GlyfsTer31
XM_011537650.2:c.828_829insGGGCAGA	XP_011535952.1:p.Phe277GlyfsTer31
XM_011537651.2:c.666_667insGGGCAGA	XP_011535953.1:p.Phe223GlyfsTer31
XM_011537653.2:c.636_637insGGGCAGA	XP_011535955.1:p.Phe213GlyfsTer31
XM_011537654.2:c.636_637insGGGCAGA	XP_011535956.1:p.Phe213GlyfsTer31
XM_017009572.2:c.1470_1471insGGGCAGA	XP_016865061.1:p.Phe491GlyfsTer31
NM_000440.3:c.1713_1714insGGGCAGA MANE Select	NP_000431.2:p.Phe572GlyfsTer31