Canonical Allele Identifier: CA1799830382
Gene: CNGB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86671400_86671401delinsGC , CM000670.2:g.86671400_86671401delinsGC GRCh38
NC_000008.10:g.87683628_87683629delinsGC , CM000670.1:g.87683628_87683629delinsGC GRCh37
NC_000008.9:g.87752744_87752745delinsGC NCBI36
NG_016980.1:g.77275_77276delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.339-303_339-302delinsGC MANE Select ENSP00000316605.5:n.339-303_339-302delinsGC
ENST00000680314.1:n.100-303_100-302delinsGC
ENST00000681746.1:c.339-303_339-302delinsGC ENSP00000505959.1:n.339-303_339-302delinsGC
ENST00000320005.5:c.339-303_339-302delinsGC ENSP00000316605.5:n.339-303_339-302delinsGC
NM_019098.4:c.339-303_339-302delinsGC NP_061971.3:n.339-303_339-302delinsGC
XM_011517138.1:c.-76-303_-76-302delinsGC XP_011515440.1:n.-76-303_-76-302delinsGC
XM_011517138.2:c.-76-303_-76-302delinsGC XP_011515440.1:n.-76-303_-76-302delinsGC
NM_019098.5:c.339-303_339-302delinsGC MANE Select NP_061971.3:n.339-303_339-302delinsGC