Canonical Allele Identifier: CA1590704050
Gene: PDE6A HGNC NCBI

Linked Data

dbSNP Id: rs1752777270

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149896933_149896934insAAAT , CM000667.2:g.149896933_149896934insAAAT GRCh38
NC_000005.9:g.149276496_149276497insAAAT , CM000667.1:g.149276496_149276497insAAAT GRCh37
NC_000005.8:g.149256689_149256690insAAAT NCBI36
NG_009102.1:g.52861_52862insTTTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000255266.10:c.1408-157_1408-156insTTTA MANE Select ENSP00000255266.5:n.1408-157_1408-156insTTTA
ENST00000255266.9:c.1408-157_1408-156insTTTA ENSP00000255266.5:n.1408-157_1408-156insTTTA
ENST00000508173.5:n.1384-157_1384-156insTTTA
ENST00000613228.1:c.1165-157_1165-156insTTTA ENSP00000478060.1:n.1165-157_1165-156insTTTA
ENST00000617647.4:c.1165-157_1165-156insTTTA ENSP00000482774.1:n.1165-157_1165-156insTTTA
NM_000440.2:c.1408-157_1408-156insTTTA NP_000431.2:n.1408-157_1408-156insTTTA
XM_011537648.1:c.1408-157_1408-156insTTTA XP_011535950.1:n.1408-157_1408-156insTTTA
XM_011537649.1:c.862-157_862-156insTTTA XP_011535951.1:n.862-157_862-156insTTTA
XM_011537650.1:c.523-157_523-156insTTTA XP_011535952.1:n.523-157_523-156insTTTA
XM_011537651.1:c.361-157_361-156insTTTA XP_011535953.1:n.361-157_361-156insTTTA
XM_011537652.1:c.331-157_331-156insTTTA XP_011535954.1:n.331-157_331-156insTTTA
XM_011537653.1:c.331-157_331-156insTTTA XP_011535955.1:n.331-157_331-156insTTTA
XM_011537654.1:c.331-157_331-156insTTTA XP_011535956.1:n.331-157_331-156insTTTA
XM_011537650.2:c.523-157_523-156insTTTA XP_011535952.1:n.523-157_523-156insTTTA
XM_011537651.2:c.361-157_361-156insTTTA XP_011535953.1:n.361-157_361-156insTTTA
XM_011537653.2:c.331-157_331-156insTTTA XP_011535955.1:n.331-157_331-156insTTTA
XM_011537654.2:c.331-157_331-156insTTTA XP_011535956.1:n.331-157_331-156insTTTA
XM_017009572.2:c.1165-157_1165-156insTTTA XP_016865061.1:n.1165-157_1165-156insTTTA
NM_000440.3:c.1408-157_1408-156insTTTA MANE Select NP_000431.2:n.1408-157_1408-156insTTTA