Canonical Allele Identifier: CA2502915846

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86575995_86575996insAATCAC , CM000670.2:g.86575995_86575996insAATCAC	GRCh38
NC_000008.10:g.87588223_87588224insAATCAC , CM000670.1:g.87588223_87588224insAATCAC	GRCh37
NC_000008.9:g.87657339_87657340insAATCAC	NCBI36
NG_016980.1:g.172681_172682insTGATTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2239_2240insTGATTG MANE Select	ENSP00000316605.5:p.Pro746_Glu747insValIle
ENST00000681546.1:n.2059_2060insTGATTG
ENST00000681746.1:c.*650_*651insTGATTG	ENSP00000505959.1:n.*650_*651insTGATTG
ENST00000320005.5:c.2239_2240insTGATTG	ENSP00000316605.5:p.Pro746_Glu747insValIle
ENST00000517327.5:c.276+2694_276+2695insTGATTG	ENSP00000428329.1:n.276+2694_276+2695insTGATTG
NM_019098.4:c.2239_2240insTGATTG	NP_061971.3:p.Pro746_Glu747insValIle
XM_011517138.1:c.1825_1826insTGATTG	XP_011515440.1:p.Pro608_Glu609insValIle
XM_011517138.2:c.1825_1826insTGATTG	XP_011515440.1:p.Pro608_Glu609insValIle
NM_019098.5:c.2239_2240insTGATTG MANE Select	NP_061971.3:p.Pro746_Glu747insValIle