Canonical Allele Identifier: CA1799783761

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86575720_86575721delinsGT , CM000670.2:g.86575720_86575721delinsGT	GRCh38
NC_000008.10:g.87587948_87587949delinsGT , CM000670.1:g.87587948_87587949delinsGT	GRCh37
NC_000008.9:g.87657064_87657065delinsGT	NCBI36
NG_016980.1:g.172955_172956delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.*83_*84delinsAC MANE Select	ENSP00000316605.5:n.*83_*84delinsAC
ENST00000681546.1:n.2333_2334delinsAC
ENST00000681746.1:c.*924_*925delinsAC	ENSP00000505959.1:n.*924_*925delinsAC
ENST00000320005.5:c.*83_*84delinsAC	ENSP00000316605.5:n.*83_*84delinsAC
ENST00000517327.5:c.276+2968_276+2969delinsAC	ENSP00000428329.1:n.276+2968_276+2969delinsAC
NM_019098.4:c.*83_*84delinsAC	NP_061971.3:n.*83_*84delinsAC
XM_011517138.1:c.*83_*84delinsAC	XP_011515440.1:n.*83_*84delinsAC
XM_011517138.2:c.*83_*84delinsAC	XP_011515440.1:n.*83_*84delinsAC
NM_019098.5:c.*83_*84delinsAC MANE Select	NP_061971.3:n.*83_*84delinsAC