Canonical Allele Identifier: CA1799868753

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86632775_86632776delinsCA , CM000670.2:g.86632775_86632776delinsCA	GRCh38
NC_000008.10:g.87645003_87645004delinsCA , CM000670.1:g.87645003_87645004delinsCA	GRCh37
NC_000008.9:g.87714119_87714120delinsCA	NCBI36
NG_016980.1:g.115900_115901delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.1296_1297delinsTG MANE Select	ENSP00000316605.5:p.Phe432=
ENST00000681546.1:n.1116_1117delinsTG
ENST00000681746.1:c.1296_1297delinsTG	ENSP00000505959.1:p.Phe432=
ENST00000320005.5:c.1296_1297delinsTG	ENSP00000316605.5:p.Phe432=
NM_019098.4:c.1296_1297delinsTG	NP_061971.3:p.Phe432=
XM_011517138.1:c.882_883delinsTG	XP_011515440.1:p.Phe294=
XM_011517138.2:c.882_883delinsTG	XP_011515440.1:p.Phe294=
NM_019098.5:c.1296_1297delinsTG MANE Select	NP_061971.3:p.Phe432=