Canonical Allele Identifier: CA2781156450
Gene: CNGB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86671100del , CM000670.2:g.86671100del GRCh38
NC_000008.10:g.87683328del , CM000670.1:g.87683328del GRCh37
NC_000008.9:g.87752444del NCBI36
NG_016980.1:g.77576del

Transcript Alleles

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