Canonical Allele Identifier: CA2675941531

Gene: PDE6A

Linked Data

• gnomAD v4: 5-149896900-ATT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149896902_149896903del , CM000667.2:g.149896902_149896903del	GRCh38
NC_000005.9:g.149276465_149276466del , CM000667.1:g.149276465_149276466del	GRCh37
NC_000005.8:g.149256658_149256659del	NCBI36
NG_009102.1:g.52892_52893del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255266.10:c.1408-126_1408-125del MANE Select	ENSP00000255266.5:n.1408-126_1408-125del
ENST00000255266.9:c.1408-126_1408-125del	ENSP00000255266.5:n.1408-126_1408-125del
ENST00000508173.5:n.1384-126_1384-125del
ENST00000613228.1:c.1165-126_1165-125del	ENSP00000478060.1:n.1165-126_1165-125del
ENST00000617647.4:c.1165-126_1165-125del	ENSP00000482774.1:n.1165-126_1165-125del
NM_000440.2:c.1408-126_1408-125del	NP_000431.2:n.1408-126_1408-125del
XM_011537648.1:c.1408-126_1408-125del	XP_011535950.1:n.1408-126_1408-125del
XM_011537649.1:c.862-126_862-125del	XP_011535951.1:n.862-126_862-125del
XM_011537650.1:c.523-126_523-125del	XP_011535952.1:n.523-126_523-125del
XM_011537651.1:c.361-126_361-125del	XP_011535953.1:n.361-126_361-125del
XM_011537652.1:c.331-126_331-125del	XP_011535954.1:n.331-126_331-125del
XM_011537653.1:c.331-126_331-125del	XP_011535955.1:n.331-126_331-125del
XM_011537654.1:c.331-126_331-125del	XP_011535956.1:n.331-126_331-125del
XM_011537650.2:c.523-126_523-125del	XP_011535952.1:n.523-126_523-125del
XM_011537651.2:c.361-126_361-125del	XP_011535953.1:n.361-126_361-125del
XM_011537653.2:c.331-126_331-125del	XP_011535955.1:n.331-126_331-125del
XM_011537654.2:c.331-126_331-125del	XP_011535956.1:n.331-126_331-125del
XM_017009572.2:c.1165-126_1165-125del	XP_016865061.1:n.1165-126_1165-125del
NM_000440.3:c.1408-126_1408-125del MANE Select	NP_000431.2:n.1408-126_1408-125del