Canonical Allele Identifier: CA2781149801

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86632939_86632946del , CM000670.2:g.86632939_86632946del	GRCh38
NC_000008.10:g.87645167_87645174del , CM000670.1:g.87645167_87645174del	GRCh37
NC_000008.9:g.87714283_87714290del	NCBI36
NG_016980.1:g.115731_115738del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.1179-52_1179-45del MANE Select	ENSP00000316605.5:n.1179-52_1179-45del
ENST00000681546.1:n.999-52_999-45del
ENST00000681746.1:c.1179-52_1179-45del	ENSP00000505959.1:n.1179-52_1179-45del
ENST00000320005.5:c.1179-52_1179-45del	ENSP00000316605.5:n.1179-52_1179-45del
NM_019098.4:c.1179-52_1179-45del	NP_061971.3:n.1179-52_1179-45del
XM_011517138.1:c.765-52_765-45del	XP_011515440.1:n.765-52_765-45del
XM_011517138.2:c.765-52_765-45del	XP_011515440.1:n.765-52_765-45del
NM_019098.5:c.1179-52_1179-45del MANE Select	NP_061971.3:n.1179-52_1179-45del