Canonical Allele Identifier: CA2687827992
Gene: CNGB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739816del , CM000670.2:g.86739816del GRCh38
NC_000008.10:g.87752044del , CM000670.1:g.87752044del GRCh37
NC_000008.9:g.87821160del NCBI36
NG_016980.1:g.8861del

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.130-79del MANE Select ENSP00000316605.5:n.130-79del
ENST00000681746.1:c.130-79del ENSP00000505959.1:n.130-79del
ENST00000320005.5:c.130-79del ENSP00000316605.5:n.130-79del
ENST00000519777.1:n.112-79del
NM_019098.4:c.130-79del NP_061971.3:n.130-79del
NM_019098.5:c.130-79del MANE Select NP_061971.3:n.130-79del