Canonical Allele Identifier: CA2576013664

Gene: CNGB1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57964073_57964074insA , CM000678.2:g.57964073_57964074insA	GRCh38
NC_000016.9:g.57997977_57997978insA , CM000678.1:g.57997977_57997978insA	GRCh37
NC_000016.8:g.56555478_56555479insA	NCBI36
NG_016351.1:g.12043_12044insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251102.13:c.290+56_290+57insT MANE Select	ENSP00000251102.8:n.290+56_290+57insT
ENST00000251102.12:c.290+56_290+57insT	ENSP00000251102.8:n.290+56_290+57insT
ENST00000311183.8:c.290+56_290+57insT	ENSP00000311670.4:n.290+56_290+57insT
ENST00000562761.1:c.290+56_290+57insT	ENSP00000455708.1:n.290+56_290+57insT
ENST00000564448.5:c.290+56_290+57insT	ENSP00000454633.1:n.290+56_290+57insT
ENST00000567568.1:n.404_405insT
NM_001135639.1:c.290+56_290+57insT	NP_001129111.1:n.290+56_290+57insT
NM_001286130.1:c.290+56_290+57insT	NP_001273059.1:n.290+56_290+57insT
NM_001297.4:c.290+56_290+57insT	NP_001288.3:n.290+56_290+57insT
XM_006721134.2:c.290+56_290+57insT	XP_006721197.1:n.290+56_290+57insT
NM_001135639.2:c.290+56_290+57insT	NP_001129111.1:n.290+56_290+57insT
NM_001286130.2:c.290+56_290+57insT	NP_001273059.1:n.290+56_290+57insT
NM_001297.5:c.290+56_290+57insT MANE Select	NP_001288.3:n.290+56_290+57insT