Canonical Allele Identifier: CA2522364601

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86574369_86574370insGATG , CM000670.2:g.86574369_86574370insGATG	GRCh38
NC_000008.10:g.87586597_87586598insGATG , CM000670.1:g.87586597_87586598insGATG	GRCh37
NC_000008.9:g.87655713_87655714insGATG	NCBI36
NG_016980.1:g.174306_174307insCATC

Transcript Alleles

HGVS	Amino-acid change
ENST00000320005.6:c.*1434_*1435insCATC MANE Select	ENSP00000316605.5:n.*1434_*1435insCATC
ENST00000681546.1:n.3684_3685insCATC
ENST00000681746.1:c.*2275_*2276insCATC	ENSP00000505959.1:n.*2275_*2276insCATC
ENST00000320005.5:c.*1434_*1435insCATC	ENSP00000316605.5:n.*1434_*1435insCATC
ENST00000517327.5:c.276+4319_276+4320insCATC	ENSP00000428329.1:n.276+4319_276+4320insC...
NM_019098.4:c.*1434_*1435insCATC	NP_061971.3:n.*1434_*1435insCATC
XM_011517138.1:c.*1434_*1435insCATC	XP_011515440.1:n.*1434_*1435insCATC
XM_011517138.2:c.*1434_*1435insCATC	XP_011515440.1:n.*1434_*1435insCATC
NM_019098.5:c.*1434_*1435insCATC MANE Select	NP_061971.3:n.*1434_*1435insCATC