Canonical Allele Identifier: CA2781149841
Gene: CNGB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86632996del , CM000670.2:g.86632996del GRCh38
NC_000008.10:g.87645224del , CM000670.1:g.87645224del GRCh37
NC_000008.9:g.87714340del NCBI36
NG_016980.1:g.115680del

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1179-103del MANE Select ENSP00000316605.5:n.1179-103del
ENST00000681546.1:n.999-103del
ENST00000681746.1:c.1179-103del ENSP00000505959.1:n.1179-103del
ENST00000320005.5:c.1179-103del ENSP00000316605.5:n.1179-103del
NM_019098.4:c.1179-103del NP_061971.3:n.1179-103del
XM_011517138.1:c.765-103del XP_011515440.1:n.765-103del
XM_011517138.2:c.765-103del XP_011515440.1:n.765-103del
NM_019098.5:c.1179-103del MANE Select NP_061971.3:n.1179-103del