Canonical Allele Identifier: CA2781154178

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86576018del , CM000670.2:g.86576018del	GRCh38
NC_000008.10:g.87588246del , CM000670.1:g.87588246del	GRCh37
NC_000008.9:g.87657362del	NCBI36
NG_016980.1:g.172658del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2216del MANE Select	ENSP00000316605.5:p.Asp739ValfsTer?
ENST00000681546.1:n.2036del
ENST00000681746.1:c.*627del	ENSP00000505959.1:n.*627del
ENST00000320005.5:c.2216del	ENSP00000316605.5:p.Asp739ValfsTer?
ENST00000517327.5:c.276+2671del	ENSP00000428329.1:n.276+2671del
NM_019098.4:c.2216del	NP_061971.3:p.Asp739ValfsTer?
XM_011517138.1:c.1802del	XP_011515440.1:p.Asp601ValfsTer?
XM_011517138.2:c.1802del	XP_011515440.1:p.Asp601ValfsTer?
NM_019098.5:c.2216del MANE Select	NP_061971.3:p.Asp739ValfsTer?