Canonical Allele Identifier: CA1590702329

Gene: PDE6A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149895153_149895154delinsAC , CM000667.2:g.149895153_149895154delinsAC	GRCh38
NC_000005.9:g.149274716_149274717delinsAC , CM000667.1:g.149274716_149274717delinsAC	GRCh37
NC_000005.8:g.149254909_149254910delinsAC	NCBI36
NG_009102.1:g.54640_54641delinsGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000255266.10:c.1728+29_1728+30delinsGT MANE Select	ENSP00000255266.5:n.1728+29_1728+30delins...
ENST00000255266.9:c.1728+29_1728+30delinsGT	ENSP00000255266.5:n.1728+29_1728+30delins...
ENST00000508173.5:n.1912+29_1912+30delinsGT
ENST00000613228.1:c.1485+29_1485+30delinsGT	ENSP00000478060.1:n.1485+29_1485+30delins...
ENST00000617647.4:c.1485+29_1485+30delinsGT	ENSP00000482774.1:n.1485+29_1485+30delins...
NM_000440.2:c.1728+29_1728+30delinsGT	NP_000431.2:n.1728+29_1728+30delinsGT
XM_011537648.1:c.1728+29_1728+30delinsGT	XP_011535950.1:n.1728+29_1728+30delinsGT
XM_011537649.1:c.1182+29_1182+30delinsGT	XP_011535951.1:n.1182+29_1182+30delinsGT
XM_011537650.1:c.843+29_843+30delinsGT	XP_011535952.1:n.843+29_843+30delinsGT
XM_011537651.1:c.681+29_681+30delinsGT	XP_011535953.1:n.681+29_681+30delinsGT
XM_011537652.1:c.651+29_651+30delinsGT	XP_011535954.1:n.651+29_651+30delinsGT
XM_011537653.1:c.651+29_651+30delinsGT	XP_011535955.1:n.651+29_651+30delinsGT
XM_011537654.1:c.651+29_651+30delinsGT	XP_011535956.1:n.651+29_651+30delinsGT
XM_011537650.2:c.843+29_843+30delinsGT	XP_011535952.1:n.843+29_843+30delinsGT
XM_011537651.2:c.681+29_681+30delinsGT	XP_011535953.1:n.681+29_681+30delinsGT
XM_011537653.2:c.651+29_651+30delinsGT	XP_011535955.1:n.651+29_651+30delinsGT
XM_011537654.2:c.651+29_651+30delinsGT	XP_011535956.1:n.651+29_651+30delinsGT
XM_017009572.2:c.1485+29_1485+30delinsGT	XP_016865061.1:n.1485+29_1485+30delinsGT
NM_000440.3:c.1728+29_1728+30delinsGT MANE Select	NP_000431.2:n.1728+29_1728+30delinsGT