Canonical Allele Identifier: CA2781158395
Gene: CNGB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739640_86739642del , CM000670.2:g.86739640_86739642del GRCh38
NC_000008.10:g.87751868_87751870del , CM000670.1:g.87751868_87751870del GRCh37
NC_000008.9:g.87820984_87820986del NCBI36
NG_016980.1:g.9034_9036del

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.211+13_211+15del MANE Select ENSP00000316605.5:n.211+13_211+15del
ENST00000681746.1:c.211+13_211+15del ENSP00000505959.1:n.211+13_211+15del
ENST00000320005.5:c.211+13_211+15del ENSP00000316605.5:n.211+13_211+15del
ENST00000519777.1:n.193+13_193+15del
NM_019098.4:c.211+13_211+15del NP_061971.3:n.211+13_211+15del
NM_019098.5:c.211+13_211+15del MANE Select NP_061971.3:n.211+13_211+15del