Canonical Allele Identifier: CA2768877865

Gene: PDE6A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149896583_149896584insA , CM000667.2:g.149896583_149896584insA	GRCh38
NC_000005.9:g.149276146_149276147insA , CM000667.1:g.149276146_149276147insA	GRCh37
NC_000005.8:g.149256339_149256340insA	NCBI36
NG_009102.1:g.53210_53211insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.1474-82_1474-81insT MANE Select	ENSP00000255266.5:n.1474-82_1474-81insT
ENST00000255266.9:c.1474-82_1474-81insT	ENSP00000255266.5:n.1474-82_1474-81insT
ENST00000508173.5:n.1576_1577insT
ENST00000613228.1:c.1231-82_1231-81insT	ENSP00000478060.1:n.1231-82_1231-81insT
ENST00000617647.4:c.1231-82_1231-81insT	ENSP00000482774.1:n.1231-82_1231-81insT
NM_000440.2:c.1474-82_1474-81insT	NP_000431.2:n.1474-82_1474-81insT
XM_011537648.1:c.1474-82_1474-81insT	XP_011535950.1:n.1474-82_1474-81insT
XM_011537649.1:c.928-82_928-81insT	XP_011535951.1:n.928-82_928-81insT
XM_011537650.1:c.589-82_589-81insT	XP_011535952.1:n.589-82_589-81insT
XM_011537651.1:c.427-82_427-81insT	XP_011535953.1:n.427-82_427-81insT
XM_011537652.1:c.397-82_397-81insT	XP_011535954.1:n.397-82_397-81insT
XM_011537653.1:c.397-82_397-81insT	XP_011535955.1:n.397-82_397-81insT
XM_011537654.1:c.397-82_397-81insT	XP_011535956.1:n.397-82_397-81insT
XM_011537650.2:c.589-82_589-81insT	XP_011535952.1:n.589-82_589-81insT
XM_011537651.2:c.427-82_427-81insT	XP_011535953.1:n.427-82_427-81insT
XM_011537653.2:c.397-82_397-81insT	XP_011535955.1:n.397-82_397-81insT
XM_011537654.2:c.397-82_397-81insT	XP_011535956.1:n.397-82_397-81insT
XM_017009572.2:c.1231-82_1231-81insT	XP_016865061.1:n.1231-82_1231-81insT
NM_000440.3:c.1474-82_1474-81insT MANE Select	NP_000431.2:n.1474-82_1474-81insT