Canonical Allele Identifier: CA1799829172

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86670692_86670716delinsATGTGAGCCACTGCACCCTGCCAGG , CM000670.2:g.86670692_86670716delinsATGTGAGCCACTGCACCCTGCCAGG	GRCh38
NC_000008.10:g.87682920_87682944delinsATGTGAGCCACTGCACCCTGCCAGG , CM000670.1:g.87682920_87682944delinsATGTGAGCCACTGCACCCTGCCAGG	GRCh37
NC_000008.9:g.87752036_87752060delinsATGTGAGCCACTGCACCCTGCCAGG	NCBI36
NG_016980.1:g.77960_77984delinsCCTGGCAGGGTGCAGTGGCTCACAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.493+228_493+252delinsCCTGGCAGGGTGCAGTGGCTCACAT MANE Select	ENSP00000316605.5:n.493+228_493+252delinsCCTGGCAGGGTGCAGTGGCT...
ENST00000680314.1:n.254+228_254+252delinsCCTGGCAGGGTGCAGTGGCTCACAT
ENST00000681746.1:c.493+228_493+252delinsCCTGGCAGGGTGCAGTGGCTCACAT	ENSP00000505959.1:n.493+228_493+252delinsCCTGGCAGGGTGCAGTGGCT...
ENST00000320005.5:c.493+228_493+252delinsCCTGGCAGGGTGCAGTGGCTCACAT	ENSP00000316605.5:n.493+228_493+252delinsCCTGGCAGGGTGCAGTGGCT...
NM_019098.4:c.493+228_493+252delinsCCTGGCAGGGTGCAGTGGCTCACAT	NP_061971.3:n.493+228_493+252delinsCCTGGCAGGGTGCAGTGGCTCACAT
XM_011517138.1:c.79+228_79+252delinsCCTGGCAGGGTGCAGTGGCTCACAT	XP_011515440.1:n.79+228_79+252delinsCCTGGCAGGGTGCAGTGGCTCACAT...
XM_011517138.2:c.79+228_79+252delinsCCTGGCAGGGTGCAGTGGCTCACAT	XP_011515440.1:n.79+228_79+252delinsCCTGGCAGGGTGCAGTGGCTCACAT...
NM_019098.5:c.493+228_493+252delinsCCTGGCAGGGTGCAGTGGCTCACAT MANE Select	NP_061971.3:n.493+228_493+252delinsCCTGGCAGGGTGCAGTGGCTCACAT