Canonical Allele Identifier: CA2579199843

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86575929_86575932del , CM000670.2:g.86575929_86575932del	GRCh38
NC_000008.10:g.87588157_87588160del , CM000670.1:g.87588157_87588160del	GRCh37
NC_000008.9:g.87657273_87657276del	NCBI36
NG_016980.1:g.172746_172749del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2304_2307del MANE Select	ENSP00000316605.5:p.His768GlnfsTer?
ENST00000681546.1:n.2124_2127del
ENST00000681746.1:c.*715_*718del	ENSP00000505959.1:n.*715_*718del
ENST00000320005.5:c.2304_2307del	ENSP00000316605.5:p.His768GlnfsTer?
ENST00000517327.5:c.276+2759_276+2762del	ENSP00000428329.1:n.276+2759_276+2762del
NM_019098.4:c.2304_2307del	NP_061971.3:p.His768GlnfsTer?
XM_011517138.1:c.1890_1893del	XP_011515440.1:p.His630GlnfsTer?
XM_011517138.2:c.1890_1893del	XP_011515440.1:p.His630GlnfsTer?
NM_019098.5:c.2304_2307del MANE Select	NP_061971.3:p.His768GlnfsTer?