Canonical Allele Identifier: CA2687828008
Gene: CNGB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739841_86739842insCAGTC , CM000670.2:g.86739841_86739842insCAGTC GRCh38
NC_000008.10:g.87752069_87752070insCAGTC , CM000670.1:g.87752069_87752070insCAGTC GRCh37
NC_000008.9:g.87821185_87821186insCAGTC NCBI36
NG_016980.1:g.8834_8835insGACTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.130-106_130-105insGACTG MANE Select ENSP00000316605.5:n.130-106_130-105insGACTG
ENST00000681746.1:c.130-106_130-105insGACTG ENSP00000505959.1:n.130-106_130-105insGACTG
ENST00000320005.5:c.130-106_130-105insGACTG ENSP00000316605.5:n.130-106_130-105insGACTG
ENST00000519777.1:n.112-106_112-105insGACTG
NM_019098.4:c.130-106_130-105insGACTG NP_061971.3:n.130-106_130-105insGACTG
NM_019098.5:c.130-106_130-105insGACTG MANE Select NP_061971.3:n.130-106_130-105insGACTG