Canonical Allele Identifier: CA2781154174

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86576016_86576022del , CM000670.2:g.86576016_86576022del	GRCh38
NC_000008.10:g.87588244_87588250del , CM000670.1:g.87588244_87588250del	GRCh37
NC_000008.9:g.87657360_87657366del	NCBI36
NG_016980.1:g.172654_172660del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2212_2218del MANE Select	ENSP00000316605.5:p.Glu738LysfsTer?
ENST00000681546.1:n.2032_2038del
ENST00000681746.1:c.*623_*629del	ENSP00000505959.1:n.*623_*629del
ENST00000320005.5:c.2212_2218del	ENSP00000316605.5:p.Glu738LysfsTer?
ENST00000517327.5:c.276+2667_276+2673del	ENSP00000428329.1:n.276+2667_276+2673del
NM_019098.4:c.2212_2218del	NP_061971.3:p.Glu738LysfsTer?
XM_011517138.1:c.1798_1804del	XP_011515440.1:p.Glu600LysfsTer?
XM_011517138.2:c.1798_1804del	XP_011515440.1:p.Glu600LysfsTer?
NM_019098.5:c.2212_2218del MANE Select	NP_061971.3:p.Glu738LysfsTer?