Canonical Allele Identifier: CA1799783618

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86575606_86575608delinsAGG , CM000670.2:g.86575606_86575608delinsAGG	GRCh38
NC_000008.10:g.87587834_87587836delinsAGG , CM000670.1:g.87587834_87587836delinsAGG	GRCh37
NC_000008.9:g.87656950_87656952delinsAGG	NCBI36
NG_016980.1:g.173068_173070delinsCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.*196_*198delinsCCT MANE Select	ENSP00000316605.5:n.*196_*198delinsCCT
ENST00000681546.1:n.2446_2448delinsCCT
ENST00000681746.1:c.*1037_*1039delinsCCT	ENSP00000505959.1:n.*1037_*1039delinsCCT
ENST00000320005.5:c.*196_*198delinsCCT	ENSP00000316605.5:n.*196_*198delinsCCT
ENST00000517327.5:c.276+3081_276+3083delinsCCT	ENSP00000428329.1:n.276+3081_276+3083delinsCCT
NM_019098.4:c.*196_*198delinsCCT	NP_061971.3:n.*196_*198delinsCCT
XM_011517138.1:c.*196_*198delinsCCT	XP_011515440.1:n.*196_*198delinsCCT
XM_011517138.2:c.*196_*198delinsCCT	XP_011515440.1:n.*196_*198delinsCCT
NM_019098.5:c.*196_*198delinsCCT MANE Select	NP_061971.3:n.*196_*198delinsCCT