Canonical Allele Identifier: CA2687828010

Gene: CNGB3

Linked Data

• gnomAD v4: 8-86739845-TGACTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86739846_86739850del , CM000670.2:g.86739846_86739850del	GRCh38
NC_000008.10:g.87752074_87752078del , CM000670.1:g.87752074_87752078del	GRCh37
NC_000008.9:g.87821190_87821194del	NCBI36
NG_016980.1:g.8826_8830del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.130-114_130-110del MANE Select	ENSP00000316605.5:n.130-114_130-110del
ENST00000681746.1:c.130-114_130-110del	ENSP00000505959.1:n.130-114_130-110del
ENST00000320005.5:c.130-114_130-110del	ENSP00000316605.5:n.130-114_130-110del
ENST00000519777.1:n.112-114_112-110del
NM_019098.4:c.130-114_130-110del	NP_061971.3:n.130-114_130-110del
NM_019098.5:c.130-114_130-110del MANE Select	NP_061971.3:n.130-114_130-110del