Canonical Allele Identifier: CA2687825016

Gene: CNGB3

Linked Data

• gnomAD v4: 8-86632697-T-TGTTA

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86632700_86632703dup , CM000670.2:g.86632700_86632703dup	GRCh38
NC_000008.10:g.87644928_87644931dup , CM000670.1:g.87644928_87644931dup	GRCh37
NC_000008.9:g.87714044_87714047dup	NCBI36
NG_016980.1:g.115975_115978dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.1320+51_1320+54dup MANE Select	ENSP00000316605.5:n.1320+51_1320+54dup
ENST00000681546.1:n.1140+51_1140+54dup
ENST00000681746.1:c.1320+51_1320+54dup	ENSP00000505959.1:n.1320+51_1320+54dup
ENST00000320005.5:c.1320+51_1320+54dup	ENSP00000316605.5:n.1320+51_1320+54dup
NM_019098.4:c.1320+51_1320+54dup	NP_061971.3:n.1320+51_1320+54dup
XM_011517138.1:c.906+51_906+54dup	XP_011515440.1:n.906+51_906+54dup
XM_011517138.2:c.906+51_906+54dup	XP_011515440.1:n.906+51_906+54dup
NM_019098.5:c.1320+51_1320+54dup MANE Select	NP_061971.3:n.1320+51_1320+54dup