Canonical Allele Identifier: CA1799889914
Gene: CNGB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739619_86739622delinsAGTT , CM000670.2:g.86739619_86739622delinsAGTT GRCh38
NC_000008.10:g.87751847_87751850delinsAGTT , CM000670.1:g.87751847_87751850delinsAGTT GRCh37
NC_000008.9:g.87820963_87820966delinsAGTT NCBI36
NG_016980.1:g.9054_9057delinsAACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.211+33_211+36delinsAACT MANE Select ENSP00000316605.5:n.211+33_211+36delinsAACT
ENST00000681746.1:c.211+33_211+36delinsAACT ENSP00000505959.1:n.211+33_211+36delinsAACT
ENST00000320005.5:c.211+33_211+36delinsAACT ENSP00000316605.5:n.211+33_211+36delinsAACT
ENST00000519777.1:n.193+33_193+36delinsAACT
NM_019098.4:c.211+33_211+36delinsAACT NP_061971.3:n.211+33_211+36delinsAACT
NM_019098.5:c.211+33_211+36delinsAACT MANE Select NP_061971.3:n.211+33_211+36delinsAACT