Canonical Allele Identifier: CA2781158473
Gene: CNGB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739867_86739868insC , CM000670.2:g.86739867_86739868insC GRCh38
NC_000008.10:g.87752095_87752096insC , CM000670.1:g.87752095_87752096insC GRCh37
NC_000008.9:g.87821211_87821212insC NCBI36
NG_016980.1:g.8808_8809insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.130-132_130-131insG MANE Select ENSP00000316605.5:n.130-132_130-131insG
ENST00000681746.1:c.130-132_130-131insG ENSP00000505959.1:n.130-132_130-131insG
ENST00000320005.5:c.130-132_130-131insG ENSP00000316605.5:n.130-132_130-131insG
ENST00000519777.1:n.112-132_112-131insG
NM_019098.4:c.130-132_130-131insG NP_061971.3:n.130-132_130-131insG
NM_019098.5:c.130-132_130-131insG MANE Select NP_061971.3:n.130-132_130-131insG