Canonical Allele Identifier: CA3504694

Gene: PDE6A

Linked Data

• dbSNP Id: rs200568837
• ExAC: 5:149276364 G / GA
• gnomAD v2: 5-149276364-G-GA
• gnomAD v3: 5-149896801-G-GA
• gnomAD v4: 5-149896801-G-GA
• MyVariant Identifiers: chr5:g.149276365_149276366insA (hg19) ; chr5:g.149276364_149276365insA (hg19) ; chr5:g.149896802_149896803insA (hg38) ; chr5:g.149896801_149896802insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149896809dup , CM000667.2:g.149896809dup	GRCh38
NC_000005.9:g.149276372dup , CM000667.1:g.149276372dup	GRCh37
NC_000005.8:g.149256565dup	NCBI36
NG_009102.1:g.52992dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000255266.10:c.1408-26dup MANE Select	ENSP00000255266.5:n.1408-26dup
ENST00000255266.9:c.1408-26dup	ENSP00000255266.5:n.1408-26dup
ENST00000508173.5:n.1384-26dup
ENST00000613228.1:c.1165-26dup	ENSP00000478060.1:n.1165-26dup
ENST00000617647.4:c.1165-26dup	ENSP00000482774.1:n.1165-26dup
NM_000440.2:c.1408-26dup	NP_000431.2:n.1408-26dup
XM_011537648.1:c.1408-26dup	XP_011535950.1:n.1408-26dup
XM_011537649.1:c.862-26dup	XP_011535951.1:n.862-26dup
XM_011537650.1:c.523-26dup	XP_011535952.1:n.523-26dup
XM_011537651.1:c.361-26dup	XP_011535953.1:n.361-26dup
XM_011537652.1:c.331-26dup	XP_011535954.1:n.331-26dup
XM_011537653.1:c.331-26dup	XP_011535955.1:n.331-26dup
XM_011537654.1:c.331-26dup	XP_011535956.1:n.331-26dup
XM_011537650.2:c.523-26dup	XP_011535952.1:n.523-26dup
XM_011537651.2:c.361-26dup	XP_011535953.1:n.361-26dup
XM_011537653.2:c.331-26dup	XP_011535955.1:n.331-26dup
XM_011537654.2:c.331-26dup	XP_011535956.1:n.331-26dup
XM_017009572.2:c.1165-26dup	XP_016865061.1:n.1165-26dup
NM_000440.3:c.1408-26dup MANE Select	NP_000431.2:n.1408-26dup