Canonical Allele Identifier: CA2687825044

Gene: CNGB3

Linked Data

• gnomAD v4: 8-86632903-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86632905_86632906del , CM000670.2:g.86632905_86632906del	GRCh38
NC_000008.10:g.87645133_87645134del , CM000670.1:g.87645133_87645134del	GRCh37
NC_000008.9:g.87714249_87714250del	NCBI36
NG_016980.1:g.115771_115772del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.1179-12_1179-11del MANE Select	ENSP00000316605.5:n.1179-12_1179-11del
ENST00000681546.1:n.999-12_999-11del
ENST00000681746.1:c.1179-12_1179-11del	ENSP00000505959.1:n.1179-12_1179-11del
ENST00000320005.5:c.1179-12_1179-11del	ENSP00000316605.5:n.1179-12_1179-11del
NM_019098.4:c.1179-12_1179-11del	NP_061971.3:n.1179-12_1179-11del
XM_011517138.1:c.765-12_765-11del	XP_011515440.1:n.765-12_765-11del
XM_011517138.2:c.765-12_765-11del	XP_011515440.1:n.765-12_765-11del
NM_019098.5:c.1179-12_1179-11del MANE Select	NP_061971.3:n.1179-12_1179-11del