Canonical Allele Identifier: CA8082655

Gene: CNGB1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57897491del , CM000678.2:g.57897491del	GRCh38
NC_000016.9:g.57931395del , CM000678.1:g.57931395del	GRCh37
NC_000016.8:g.56488896del	NCBI36
NG_016351.1:g.78628del

Transcript Alleles

HGVS	Amino-acid Change
NM_001297.5:c.3150del MANE Select	NP_001288.3:p.Phe1051LeufsTer12
ENST00000251102.13:c.3150del MANE Select	ENSP00000251102.8:p.Phe1051LeufsTer12
NM_001286130.1:c.3132del	NP_001273059.1:p.Phe1045LeufsTer12
NM_001286130.2:c.3132del	NP_001273059.1:p.Phe1045LeufsTer12
NM_001297.4:c.3150del	NP_001288.3:p.Phe1051LeufsTer12
ENST00000251102.12:c.3150del	ENSP00000251102.8:p.Phe1051LeufsTer12
ENST00000564448.5:c.3132del	ENSP00000454633.1:p.Phe1045LeufsTer12
ENST00000565942.1:c.196del
XM_006721134.2:c.3150del	XP_006721197.1:p.Phe1051LeufsTer12
XM_011522870.1:c.2001del	XP_011521172.1:p.Phe668LeufsTer12
XM_011522870.2:c.2001del	XP_011521172.1:p.Phe668LeufsTer12