Canonical Allele Identifier: CA2768877952

Gene: PDE6A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149896893_149896894del , CM000667.2:g.149896893_149896894del	GRCh38
NC_000005.9:g.149276456_149276457del , CM000667.1:g.149276456_149276457del	GRCh37
NC_000005.8:g.149256649_149256650del	NCBI36
NG_009102.1:g.52900_52901del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.1408-118_1408-117del MANE Select	ENSP00000255266.5:n.1408-118_1408-117del
ENST00000255266.9:c.1408-118_1408-117del	ENSP00000255266.5:n.1408-118_1408-117del
ENST00000508173.5:n.1384-118_1384-117del
ENST00000613228.1:c.1165-118_1165-117del	ENSP00000478060.1:n.1165-118_1165-117del
ENST00000617647.4:c.1165-118_1165-117del	ENSP00000482774.1:n.1165-118_1165-117del
NM_000440.2:c.1408-118_1408-117del	NP_000431.2:n.1408-118_1408-117del
XM_011537648.1:c.1408-118_1408-117del	XP_011535950.1:n.1408-118_1408-117del
XM_011537649.1:c.862-118_862-117del	XP_011535951.1:n.862-118_862-117del
XM_011537650.1:c.523-118_523-117del	XP_011535952.1:n.523-118_523-117del
XM_011537651.1:c.361-118_361-117del	XP_011535953.1:n.361-118_361-117del
XM_011537652.1:c.331-118_331-117del	XP_011535954.1:n.331-118_331-117del
XM_011537653.1:c.331-118_331-117del	XP_011535955.1:n.331-118_331-117del
XM_011537654.1:c.331-118_331-117del	XP_011535956.1:n.331-118_331-117del
XM_011537650.2:c.523-118_523-117del	XP_011535952.1:n.523-118_523-117del
XM_011537651.2:c.361-118_361-117del	XP_011535953.1:n.361-118_361-117del
XM_011537653.2:c.331-118_331-117del	XP_011535955.1:n.331-118_331-117del
XM_011537654.2:c.331-118_331-117del	XP_011535956.1:n.331-118_331-117del
XM_017009572.2:c.1165-118_1165-117del	XP_016865061.1:n.1165-118_1165-117del
NM_000440.3:c.1408-118_1408-117del MANE Select	NP_000431.2:n.1408-118_1408-117del