Canonical Allele Identifier: CA2781156449

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86671093_86671094insACA , CM000670.2:g.86671093_86671094insACA	GRCh38
NC_000008.10:g.87683321_87683322insACA , CM000670.1:g.87683321_87683322insACA	GRCh37
NC_000008.9:g.87752437_87752438insACA	NCBI36
NG_016980.1:g.77582_77583insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.343_344insTGT MANE Select	ENSP00000316605.5:p.Gln115LeufsTer2
ENST00000680314.1:n.104_105insTGT
ENST00000681746.1:c.343_344insTGT	ENSP00000505959.1:p.Gln115LeufsTer2
ENST00000320005.5:c.343_344insTGT	ENSP00000316605.5:p.Gln115LeufsTer2
NM_019098.4:c.343_344insTGT	NP_061971.3:p.Gln115LeufsTer2
XM_011517138.1:c.-72_-71insTGT	XP_011515440.1:n.-72_-71insTGT
XM_011517138.2:c.-72_-71insTGT	XP_011515440.1:n.-72_-71insTGT
NM_019098.5:c.343_344insTGT MANE Select	NP_061971.3:p.Gln115LeufsTer2