Canonical Allele Identifier: CA2781154199

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86576054_86576055insA , CM000670.2:g.86576054_86576055insA	GRCh38
NC_000008.10:g.87588282_87588283insA , CM000670.1:g.87588282_87588283insA	GRCh37
NC_000008.9:g.87657398_87657399insA	NCBI36
NG_016980.1:g.172621_172622insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2179_2180insT MANE Select	ENSP00000316605.5:p.Gln727LeufsTer5
ENST00000681546.1:n.1999_2000insT
ENST00000681746.1:c.*590_*591insT	ENSP00000505959.1:n.*590_*591insT
ENST00000320005.5:c.2179_2180insT	ENSP00000316605.5:p.Gln727LeufsTer5
ENST00000517327.5:c.276+2634_276+2635insT	ENSP00000428329.1:n.276+2634_276+2635insT
NM_019098.4:c.2179_2180insT	NP_061971.3:p.Gln727LeufsTer5
XM_011517138.1:c.1765_1766insT	XP_011515440.1:p.Gln589LeufsTer5
XM_011517138.2:c.1765_1766insT	XP_011515440.1:p.Gln589LeufsTer5
NM_019098.5:c.2179_2180insT MANE Select	NP_061971.3:p.Gln727LeufsTer5