Canonical Allele Identifier: CA1590703946
Gene: PDE6A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149896801_149896802delinsGA , CM000667.2:g.149896801_149896802delinsGA GRCh38
NC_000005.9:g.149276364_149276365delinsGA , CM000667.1:g.149276364_149276365delinsGA GRCh37
NC_000005.8:g.149256557_149256558delinsGA NCBI36
NG_009102.1:g.52992_52993delinsTC

Transcript Alleles

HGVS Amino-acid change
ENST00000255266.10:c.1408-26_1408-25delinsTC MANE Select ENSP00000255266.5:n.1408-26_1408-25delins...
ENST00000255266.9:c.1408-26_1408-25delinsTC ENSP00000255266.5:n.1408-26_1408-25delins...
ENST00000508173.5:n.1384-26_1384-25delinsTC
ENST00000613228.1:c.1165-26_1165-25delinsTC ENSP00000478060.1:n.1165-26_1165-25delins...
ENST00000617647.4:c.1165-26_1165-25delinsTC ENSP00000482774.1:n.1165-26_1165-25delins...
NM_000440.2:c.1408-26_1408-25delinsTC NP_000431.2:n.1408-26_1408-25delinsTC
XM_011537648.1:c.1408-26_1408-25delinsTC XP_011535950.1:n.1408-26_1408-25delinsTC
XM_011537649.1:c.862-26_862-25delinsTC XP_011535951.1:n.862-26_862-25delinsTC
XM_011537650.1:c.523-26_523-25delinsTC XP_011535952.1:n.523-26_523-25delinsTC
XM_011537651.1:c.361-26_361-25delinsTC XP_011535953.1:n.361-26_361-25delinsTC
XM_011537652.1:c.331-26_331-25delinsTC XP_011535954.1:n.331-26_331-25delinsTC
XM_011537653.1:c.331-26_331-25delinsTC XP_011535955.1:n.331-26_331-25delinsTC
XM_011537654.1:c.331-26_331-25delinsTC XP_011535956.1:n.331-26_331-25delinsTC
XM_011537650.2:c.523-26_523-25delinsTC XP_011535952.1:n.523-26_523-25delinsTC
XM_011537651.2:c.361-26_361-25delinsTC XP_011535953.1:n.361-26_361-25delinsTC
XM_011537653.2:c.331-26_331-25delinsTC XP_011535955.1:n.331-26_331-25delinsTC
XM_011537654.2:c.331-26_331-25delinsTC XP_011535956.1:n.331-26_331-25delinsTC
XM_017009572.2:c.1165-26_1165-25delinsTC XP_016865061.1:n.1165-26_1165-25delinsTC
NM_000440.3:c.1408-26_1408-25delinsTC MANE Select NP_000431.2:n.1408-26_1408-25delinsTC