Canonical Allele Identifier: CA2675941017

Gene: PDE6A

Linked Data

• gnomAD v4: 5-149895059-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149895061_149895062del , CM000667.2:g.149895061_149895062del	GRCh38
NC_000005.9:g.149274624_149274625del , CM000667.1:g.149274624_149274625del	GRCh37
NC_000005.8:g.149254817_149254818del	NCBI36
NG_009102.1:g.54733_54734del

Transcript Alleles

HGVS	Amino-acid change
ENST00000255266.10:c.1728+122_1728+123del MANE Select	ENSP00000255266.5:n.1728+122_1728+123del
ENST00000255266.9:c.1728+122_1728+123del	ENSP00000255266.5:n.1728+122_1728+123del
ENST00000508173.5:n.1912+122_1912+123del
ENST00000613228.1:c.1485+122_1485+123del	ENSP00000478060.1:n.1485+122_1485+123del
ENST00000617647.4:c.1485+122_1485+123del	ENSP00000482774.1:n.1485+122_1485+123del
NM_000440.2:c.1728+122_1728+123del	NP_000431.2:n.1728+122_1728+123del
XM_011537648.1:c.1728+122_1728+123del	XP_011535950.1:n.1728+122_1728+123del
XM_011537649.1:c.1182+122_1182+123del	XP_011535951.1:n.1182+122_1182+123del
XM_011537650.1:c.843+122_843+123del	XP_011535952.1:n.843+122_843+123del
XM_011537651.1:c.681+122_681+123del	XP_011535953.1:n.681+122_681+123del
XM_011537652.1:c.651+122_651+123del	XP_011535954.1:n.651+122_651+123del
XM_011537653.1:c.651+122_651+123del	XP_011535955.1:n.651+122_651+123del
XM_011537654.1:c.651+122_651+123del	XP_011535956.1:n.651+122_651+123del
XM_011537650.2:c.843+122_843+123del	XP_011535952.1:n.843+122_843+123del
XM_011537651.2:c.681+122_681+123del	XP_011535953.1:n.681+122_681+123del
XM_011537653.2:c.651+122_651+123del	XP_011535955.1:n.651+122_651+123del
XM_011537654.2:c.651+122_651+123del	XP_011535956.1:n.651+122_651+123del
XM_017009572.2:c.1485+122_1485+123del	XP_016865061.1:n.1485+122_1485+123del
NM_000440.3:c.1728+122_1728+123del MANE Select	NP_000431.2:n.1728+122_1728+123del