Canonical Allele Identifier: CA2687827954
Gene: CNGB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739734_86739741del , CM000670.2:g.86739734_86739741del GRCh38
NC_000008.10:g.87751962_87751969del , CM000670.1:g.87751962_87751969del GRCh37
NC_000008.9:g.87821078_87821085del NCBI36
NG_016980.1:g.8935_8942del

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.130-5_132del
ENST00000681746.1:c.130-5_132del
ENST00000320005.5:c.130-5_132del
ENST00000519777.1:n.112-5_114del
NM_019098.4:c.130-5_132del
NM_019098.5:c.130-5_132del