Canonical Allele Identifier: CA1799784400

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86576012_86576013delinsTC , CM000670.2:g.86576012_86576013delinsTC	GRCh38
NC_000008.10:g.87588240_87588241delinsTC , CM000670.1:g.87588240_87588241delinsTC	GRCh37
NC_000008.9:g.87657356_87657357delinsTC	NCBI36
NG_016980.1:g.172663_172664delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2221_2222delinsGA MANE Select	ENSP00000316605.5:p.Asp741=
ENST00000681546.1:n.2041_2042delinsGA
ENST00000681746.1:c.*632_*633delinsGA	ENSP00000505959.1:n.*632_*633delinsGA
ENST00000320005.5:c.2221_2222delinsGA	ENSP00000316605.5:p.Asp741=
ENST00000517327.5:c.276+2676_276+2677delinsGA	ENSP00000428329.1:n.276+2676_276+2677delinsGA
NM_019098.4:c.2221_2222delinsGA	NP_061971.3:p.Asp741=
XM_011517138.1:c.1807_1808delinsGA	XP_011515440.1:p.Asp603=
XM_011517138.2:c.1807_1808delinsGA	XP_011515440.1:p.Asp603=
NM_019098.5:c.2221_2222delinsGA MANE Select	NP_061971.3:p.Asp741=