Canonical Allele Identifier: CA1116229575

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86576055_86576058del , CM000670.2:g.86576055_86576058del	GRCh38
NC_000008.10:g.87588283_87588286del , CM000670.1:g.87588283_87588286del	GRCh37
NC_000008.9:g.87657399_87657402del	NCBI36
NG_016980.1:g.172621_172624del

Transcript Alleles

HGVS	Amino-acid Change
NM_019098.5:c.2179_2182del MANE Select	NP_061971.3:p.Gln727LysfsTer?
ENST00000320005.6:c.2179_2182del MANE Select	ENSP00000316605.5:p.Gln727LysfsTer?
NM_019098.4:c.2179_2182del	NP_061971.3:p.Gln727LysfsTer?
ENST00000320005.5:c.2179_2182del	ENSP00000316605.5:p.Gln727LysfsTer?
ENST00000517327.5:c.276+2634_276+2637del	ENSP00000428329.1:n.276+2634_276+2637del
ENST00000681546.1:n.1999_2002del
ENST00000681746.1:c.*590_*593del	ENSP00000505959.1:n.*590_*593del
XM_011517138.1:c.1765_1768del	XP_011515440.1:p.Gln589LysfsTer?
XM_011517138.2:c.1765_1768del	XP_011515440.1:p.Gln589LysfsTer?