Canonical Allele Identifier: CA3054206690

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86575969_86575970delinsCC , CM000670.2:g.86575969_86575970delinsCC	GRCh38
NC_000008.10:g.87588197_87588198delinsCC , CM000670.1:g.87588197_87588198delinsCC	GRCh37
NC_000008.9:g.87657313_87657314delinsCC	NCBI36
NG_016980.1:g.172706_172707delinsGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2264_2265delinsGG MANE Select	ENSP00000316605.5:p.Glu755Gly
ENST00000681546.1:n.2084_2085delinsGG
ENST00000681746.1:c.*675_*676delinsGG	ENSP00000505959.1:n.*675_*676delinsGG
ENST00000320005.5:c.2264_2265delinsGG	ENSP00000316605.5:p.Glu755Gly
ENST00000517327.5:c.276+2719_276+2720delinsGG	ENSP00000428329.1:n.276+2719_276+2720delinsGG
NM_019098.4:c.2264_2265delinsGG	NP_061971.3:p.Glu755Gly
XM_011517138.1:c.1850_1851delinsGG	XP_011515440.1:p.Glu617Gly
XM_011517138.2:c.1850_1851delinsGG	XP_011515440.1:p.Glu617Gly
NM_019098.5:c.2264_2265delinsGG MANE Select	NP_061971.3:p.Glu755Gly