Canonical Allele Identifier: CA2768877704

Gene: PDE6A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149895047_149895152del , CM000667.2:g.149895047_149895152del	GRCh38
NC_000005.9:g.149274610_149274715del , CM000667.1:g.149274610_149274715del	GRCh37
NC_000005.8:g.149254803_149254908del	NCBI36
NG_009102.1:g.54648_54753del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.1728+37_1728+142del MANE Select	ENSP00000255266.5:n.1728+37_1728+142del
ENST00000255266.9:c.1728+37_1728+142del	ENSP00000255266.5:n.1728+37_1728+142del
ENST00000508173.5:n.1912+37_1912+142del
ENST00000613228.1:c.1485+37_1485+142del	ENSP00000478060.1:n.1485+37_1485+142del
ENST00000617647.4:c.1485+37_1485+142del	ENSP00000482774.1:n.1485+37_1485+142del
NM_000440.2:c.1728+37_1728+142del	NP_000431.2:n.1728+37_1728+142del
XM_011537648.1:c.1728+37_1728+142del	XP_011535950.1:n.1728+37_1728+142del
XM_011537649.1:c.1182+37_1182+142del	XP_011535951.1:n.1182+37_1182+142del
XM_011537650.1:c.843+37_843+142del	XP_011535952.1:n.843+37_843+142del
XM_011537651.1:c.681+37_681+142del	XP_011535953.1:n.681+37_681+142del
XM_011537652.1:c.651+37_651+142del	XP_011535954.1:n.651+37_651+142del
XM_011537653.1:c.651+37_651+142del	XP_011535955.1:n.651+37_651+142del
XM_011537654.1:c.651+37_651+142del	XP_011535956.1:n.651+37_651+142del
XM_011537650.2:c.843+37_843+142del	XP_011535952.1:n.843+37_843+142del
XM_011537651.2:c.681+37_681+142del	XP_011535953.1:n.681+37_681+142del
XM_011537653.2:c.651+37_651+142del	XP_011535955.1:n.651+37_651+142del
XM_011537654.2:c.651+37_651+142del	XP_011535956.1:n.651+37_651+142del
XM_017009572.2:c.1485+37_1485+142del	XP_016865061.1:n.1485+37_1485+142del
NM_000440.3:c.1728+37_1728+142del MANE Select	NP_000431.2:n.1728+37_1728+142del