Canonical Allele Identifier: CA2572645315
Gene: CNGB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739821_86739824del , CM000670.2:g.86739821_86739824del GRCh38
NC_000008.10:g.87752049_87752052del , CM000670.1:g.87752049_87752052del GRCh37
NC_000008.9:g.87821165_87821168del NCBI36
NG_016980.1:g.8854_8857del

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.130-86_130-83del MANE Select ENSP00000316605.5:n.130-86_130-83del
ENST00000681746.1:c.130-86_130-83del ENSP00000505959.1:n.130-86_130-83del
ENST00000320005.5:c.130-86_130-83del ENSP00000316605.5:n.130-86_130-83del
ENST00000519777.1:n.112-86_112-83del
NM_019098.4:c.130-86_130-83del NP_061971.3:n.130-86_130-83del
NM_019098.5:c.130-86_130-83del MANE Select NP_061971.3:n.130-86_130-83del