Canonical Allele Identifier: CA2781156460

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86671146_86671148del , CM000670.2:g.86671146_86671148del	GRCh38
NC_000008.10:g.87683374_87683376del , CM000670.1:g.87683374_87683376del	GRCh37
NC_000008.9:g.87752490_87752492del	NCBI36
NG_016980.1:g.77528_77530del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.339-50_339-48del MANE Select	ENSP00000316605.5:n.339-50_339-48del
ENST00000680314.1:n.100-50_100-48del
ENST00000681746.1:c.339-50_339-48del	ENSP00000505959.1:n.339-50_339-48del
ENST00000320005.5:c.339-50_339-48del	ENSP00000316605.5:n.339-50_339-48del
NM_019098.4:c.339-50_339-48del	NP_061971.3:n.339-50_339-48del
XM_011517138.1:c.-76-50_-76-48del	XP_011515440.1:n.-76-50_-76-48del
XM_011517138.2:c.-76-50_-76-48del	XP_011515440.1:n.-76-50_-76-48del
NM_019098.5:c.339-50_339-48del MANE Select	NP_061971.3:n.339-50_339-48del