Canonical Allele Identifier: CA2768877714

Gene: PDE6A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149895337_149895354del , CM000667.2:g.149895337_149895354del	GRCh38
NC_000005.9:g.149274900_149274917del , CM000667.1:g.149274900_149274917del	GRCh37
NC_000005.8:g.149255093_149255110del	NCBI36
NG_009102.1:g.54440_54457del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.1621-64_1621-47del MANE Select	ENSP00000255266.5:n.1621-64_1621-47del
ENST00000255266.9:c.1621-64_1621-47del	ENSP00000255266.5:n.1621-64_1621-47del
ENST00000508173.5:n.1805-64_1805-47del
ENST00000613228.1:c.1378-64_1378-47del	ENSP00000478060.1:n.1378-64_1378-47del
ENST00000617647.4:c.1378-64_1378-47del	ENSP00000482774.1:n.1378-64_1378-47del
NM_000440.2:c.1621-64_1621-47del	NP_000431.2:n.1621-64_1621-47del
XM_011537648.1:c.1621-64_1621-47del	XP_011535950.1:n.1621-64_1621-47del
XM_011537649.1:c.1075-64_1075-47del	XP_011535951.1:n.1075-64_1075-47del
XM_011537650.1:c.736-64_736-47del	XP_011535952.1:n.736-64_736-47del
XM_011537651.1:c.574-64_574-47del	XP_011535953.1:n.574-64_574-47del
XM_011537652.1:c.544-64_544-47del	XP_011535954.1:n.544-64_544-47del
XM_011537653.1:c.544-64_544-47del	XP_011535955.1:n.544-64_544-47del
XM_011537654.1:c.544-64_544-47del	XP_011535956.1:n.544-64_544-47del
XM_011537650.2:c.736-64_736-47del	XP_011535952.1:n.736-64_736-47del
XM_011537651.2:c.574-64_574-47del	XP_011535953.1:n.574-64_574-47del
XM_011537653.2:c.544-64_544-47del	XP_011535955.1:n.544-64_544-47del
XM_011537654.2:c.544-64_544-47del	XP_011535956.1:n.544-64_544-47del
XM_017009572.2:c.1378-64_1378-47del	XP_016865061.1:n.1378-64_1378-47del
NM_000440.3:c.1621-64_1621-47del MANE Select	NP_000431.2:n.1621-64_1621-47del