Canonical Allele Identifier: CA2781154104

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86574509del , CM000670.2:g.86574509del	GRCh38
NC_000008.10:g.87586737del , CM000670.1:g.87586737del	GRCh37
NC_000008.9:g.87655853del	NCBI36
NG_016980.1:g.174167del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.*1295del MANE Select	ENSP00000316605.5:n.*1295del
ENST00000681546.1:n.3545del
ENST00000681746.1:c.*2136del	ENSP00000505959.1:n.*2136del
ENST00000320005.5:c.*1295del	ENSP00000316605.5:n.*1295del
ENST00000517327.5:c.276+4180del	ENSP00000428329.1:n.276+4180del
NM_019098.4:c.*1295del	NP_061971.3:n.*1295del
XM_011517138.1:c.*1295del	XP_011515440.1:n.*1295del
XM_011517138.2:c.*1295del	XP_011515440.1:n.*1295del
NM_019098.5:c.*1295del MANE Select	NP_061971.3:n.*1295del