Canonical Allele Identifier: CA1799829981

Gene: CNGB3

Linked Data

• dbSNP Id: rs1823317431

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86647806_86647807insATGAT , CM000670.2:g.86647806_86647807insATGAT	GRCh38
NC_000008.10:g.87660034_87660035insATGAT , CM000670.1:g.87660034_87660035insATGAT	GRCh37
NC_000008.9:g.87729150_87729151insATGAT	NCBI36
NG_016980.1:g.100869_100870insATCAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000320005.6:c.984_985insATCAT MANE Select	ENSP00000316605.5:p.Leu329IlefsTer3
ENST00000681546.1:n.804_805insATCAT
ENST00000681746.1:c.984_985insATCAT	ENSP00000505959.1:p.Leu329IlefsTer3
ENST00000320005.5:c.984_985insATCAT	ENSP00000316605.5:p.Leu329IlefsTer3
NM_019098.4:c.984_985insATCAT	NP_061971.3:p.Leu329IlefsTer3
XM_011517138.1:c.570_571insATCAT	XP_011515440.1:p.Leu191IlefsTer3
XM_011517138.2:c.570_571insATCAT	XP_011515440.1:p.Leu191IlefsTer3
NM_019098.5:c.984_985insATCAT MANE Select	NP_061971.3:p.Leu329IlefsTer3