Canonical Allele Identifier: CA2781149848

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86633014_86633018del , CM000670.2:g.86633014_86633018del	GRCh38
NC_000008.10:g.87645242_87645246del , CM000670.1:g.87645242_87645246del	GRCh37
NC_000008.9:g.87714358_87714362del	NCBI36
NG_016980.1:g.115658_115662del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.1179-125_1179-121del MANE Select	ENSP00000316605.5:n.1179-125_1179-121del
ENST00000681546.1:n.999-125_999-121del
ENST00000681746.1:c.1179-125_1179-121del	ENSP00000505959.1:n.1179-125_1179-121del
ENST00000320005.5:c.1179-125_1179-121del	ENSP00000316605.5:n.1179-125_1179-121del
NM_019098.4:c.1179-125_1179-121del	NP_061971.3:n.1179-125_1179-121del
XM_011517138.1:c.765-125_765-121del	XP_011515440.1:n.765-125_765-121del
XM_011517138.2:c.765-125_765-121del	XP_011515440.1:n.765-125_765-121del
NM_019098.5:c.1179-125_1179-121del MANE Select	NP_061971.3:n.1179-125_1179-121del