Canonical Allele Identifier: CA2499217727

Gene: PDE6A

Linked Data

• ClinVar Variation Id: 1068664
• ClinVar RCV Id: RCV001380297
• dbSNP Id: rs2113582639
• gnomAD v4: 5-149895246-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149895248del , CM000667.2:g.149895248del	GRCh38
NC_000005.9:g.149274811del , CM000667.1:g.149274811del	GRCh37
NC_000005.8:g.149255004del	NCBI36
NG_009102.1:g.54547del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.1664del MANE Select	ENSP00000255266.5:p.Lys555ArgfsTer22
ENST00000255266.9:c.1664del	ENSP00000255266.5:p.Lys555ArgfsTer22
ENST00000508173.5:n.1848del
ENST00000613228.1:c.1421del	ENSP00000478060.1:p.Lys474ArgfsTer22
ENST00000617647.4:c.1421del	ENSP00000482774.1:p.Lys474ArgfsTer22
NM_000440.2:c.1664del	NP_000431.2:p.Lys555ArgfsTer22
XM_011537648.1:c.1664del	XP_011535950.1:p.Lys555ArgfsTer22
XM_011537649.1:c.1118del	XP_011535951.1:p.Lys373ArgfsTer22
XM_011537650.1:c.779del	XP_011535952.1:p.Lys260ArgfsTer22
XM_011537651.1:c.617del	XP_011535953.1:p.Lys206ArgfsTer22
XM_011537652.1:c.587del	XP_011535954.1:p.Lys196ArgfsTer22
XM_011537653.1:c.587del	XP_011535955.1:p.Lys196ArgfsTer22
XM_011537654.1:c.587del	XP_011535956.1:p.Lys196ArgfsTer22
XM_011537650.2:c.779del	XP_011535952.1:p.Lys260ArgfsTer22
XM_011537651.2:c.617del	XP_011535953.1:p.Lys206ArgfsTer22
XM_011537653.2:c.587del	XP_011535955.1:p.Lys196ArgfsTer22
XM_011537654.2:c.587del	XP_011535956.1:p.Lys196ArgfsTer22
XM_017009572.2:c.1421del	XP_016865061.1:p.Lys474ArgfsTer22
NM_000440.3:c.1664del MANE Select	NP_000431.2:p.Lys555ArgfsTer22