Canonical Allele Identifier: CA2500079343

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86643819_86643820del , CM000670.2:g.86643819_86643820del	GRCh38
NC_000008.10:g.87656047_87656048del , CM000670.1:g.87656047_87656048del	GRCh37
NC_000008.9:g.87725163_87725164del	NCBI36
NG_016980.1:g.104857_104858del

Transcript Alleles

HGVS	Amino-acid change
ENST00000320005.6:c.1110_1111del MANE Select	ENSP00000316605.5:p.Tyr371LeufsTer7
ENST00000681546.1:n.930_931del
ENST00000681746.1:c.1110_1111del	ENSP00000505959.1:p.Tyr371LeufsTer7
ENST00000320005.5:c.1110_1111del	ENSP00000316605.5:p.Tyr371LeufsTer7
NM_019098.4:c.1110_1111del	NP_061971.3:p.Tyr371LeufsTer7
XM_011517138.1:c.696_697del	XP_011515440.1:p.Tyr233LeufsTer7
XM_011517138.2:c.696_697del	XP_011515440.1:p.Tyr233LeufsTer7
NM_019098.5:c.1110_1111del MANE Select	NP_061971.3:p.Tyr371LeufsTer7