Canonical Allele Identifier: CA2781154198

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86576052_86576053insAGA , CM000670.2:g.86576052_86576053insAGA	GRCh38
NC_000008.10:g.87588280_87588281insAGA , CM000670.1:g.87588280_87588281insAGA	GRCh37
NC_000008.9:g.87657396_87657397insAGA	NCBI36
NG_016980.1:g.172623_172624insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2181_2182insTCT MANE Select	ENSP00000316605.5:p.Gln727_Lys728insSer
ENST00000681546.1:n.2001_2002insTCT
ENST00000681746.1:c.*592_*593insTCT	ENSP00000505959.1:n.*592_*593insTCT
ENST00000320005.5:c.2181_2182insTCT	ENSP00000316605.5:p.Gln727_Lys728insSer
ENST00000517327.5:c.276+2636_276+2637insTCT	ENSP00000428329.1:n.276+2636_276+2637insTCT
NM_019098.4:c.2181_2182insTCT	NP_061971.3:p.Gln727_Lys728insSer
XM_011517138.1:c.1767_1768insTCT	XP_011515440.1:p.Gln589_Lys590insSer
XM_011517138.2:c.1767_1768insTCT	XP_011515440.1:p.Gln589_Lys590insSer
NM_019098.5:c.2181_2182insTCT MANE Select	NP_061971.3:p.Gln727_Lys728insSer