Canonical Allele Identifier: CA2781156481
Gene: CNGB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86671161_86671171del , CM000670.2:g.86671161_86671171del GRCh38
NC_000008.10:g.87683389_87683399del , CM000670.1:g.87683389_87683399del GRCh37
NC_000008.9:g.87752505_87752515del NCBI36
NG_016980.1:g.77505_77515del

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.339-73_339-63del MANE Select ENSP00000316605.5:n.339-73_339-63del
ENST00000680314.1:n.100-73_100-63del
ENST00000681746.1:c.339-73_339-63del ENSP00000505959.1:n.339-73_339-63del
ENST00000320005.5:c.339-73_339-63del ENSP00000316605.5:n.339-73_339-63del
NM_019098.4:c.339-73_339-63del NP_061971.3:n.339-73_339-63del
XM_011517138.1:c.-76-73_-76-63del XP_011515440.1:n.-76-73_-76-63del
XM_011517138.2:c.-76-73_-76-63del XP_011515440.1:n.-76-73_-76-63del
NM_019098.5:c.339-73_339-63del MANE Select NP_061971.3:n.339-73_339-63del