Canonical Allele Identifier: CA2781154191

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86576037_86576043del , CM000670.2:g.86576037_86576043del	GRCh38
NC_000008.10:g.87588265_87588271del , CM000670.1:g.87588265_87588271del	GRCh37
NC_000008.9:g.87657381_87657387del	NCBI36
NG_016980.1:g.172633_172639del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2191_2197del MANE Select	ENSP00000316605.5:p.Glu731LysfsTer?
ENST00000681546.1:n.2011_2017del
ENST00000681746.1:c.*602_*608del	ENSP00000505959.1:n.*602_*608del
ENST00000320005.5:c.2191_2197del	ENSP00000316605.5:p.Glu731LysfsTer?
ENST00000517327.5:c.276+2646_276+2652del	ENSP00000428329.1:n.276+2646_276+2652del
NM_019098.4:c.2191_2197del	NP_061971.3:p.Glu731LysfsTer?
XM_011517138.1:c.1777_1783del	XP_011515440.1:p.Glu593LysfsTer?
XM_011517138.2:c.1777_1783del	XP_011515440.1:p.Glu593LysfsTer?
NM_019098.5:c.2191_2197del MANE Select	NP_061971.3:p.Glu731LysfsTer?