Canonical Allele Identifier: CA2687823571

Gene: CNGB3

Linked Data

• gnomAD v4: 8-86575732-T-TAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86575734_86575735insAAA , CM000670.2:g.86575734_86575735insAAA	GRCh38
NC_000008.10:g.87587962_87587963insAAA , CM000670.1:g.87587962_87587963insAAA	GRCh37
NC_000008.9:g.87657078_87657079insAAA	NCBI36
NG_016980.1:g.172943_172944insTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.*71_*72insTTT MANE Select	ENSP00000316605.5:n.*71_*72insTTT
ENST00000681546.1:n.2321_2322insTTT
ENST00000681746.1:c.*912_*913insTTT	ENSP00000505959.1:n.*912_*913insTTT
ENST00000320005.5:c.*71_*72insTTT	ENSP00000316605.5:n.*71_*72insTTT
ENST00000517327.5:c.276+2956_276+2957insTTT	ENSP00000428329.1:n.276+2956_276+2957insTTT
NM_019098.4:c.*71_*72insTTT	NP_061971.3:n.*71_*72insTTT
XM_011517138.1:c.*71_*72insTTT	XP_011515440.1:n.*71_*72insTTT
XM_011517138.2:c.*71_*72insTTT	XP_011515440.1:n.*71_*72insTTT
NM_019098.5:c.*71_*72insTTT MANE Select	NP_061971.3:n.*71_*72insTTT