Canonical Allele Identifier: CA2687827946

Gene: CNGB3

Linked Data

• gnomAD v4: 8-86739638-TCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86739639_86739640del , CM000670.2:g.86739639_86739640del	GRCh38
NC_000008.10:g.87751867_87751868del , CM000670.1:g.87751867_87751868del	GRCh37
NC_000008.9:g.87820983_87820984del	NCBI36
NG_016980.1:g.9036_9037del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.211+15_211+16del MANE Select	ENSP00000316605.5:n.211+15_211+16del
ENST00000681746.1:c.211+15_211+16del	ENSP00000505959.1:n.211+15_211+16del
ENST00000320005.5:c.211+15_211+16del	ENSP00000316605.5:n.211+15_211+16del
ENST00000519777.1:n.193+15_193+16del
NM_019098.4:c.211+15_211+16del	NP_061971.3:n.211+15_211+16del
NM_019098.5:c.211+15_211+16del MANE Select	NP_061971.3:n.211+15_211+16del