Canonical Allele Identifier: CA2781150523

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86643911_86643917del , CM000670.2:g.86643911_86643917del	GRCh38
NC_000008.10:g.87656139_87656145del , CM000670.1:g.87656139_87656145del	GRCh37
NC_000008.9:g.87725255_87725261del	NCBI36
NG_016980.1:g.104759_104765del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.1056-44_1056-38del MANE Select	ENSP00000316605.5:n.1056-44_1056-38del
ENST00000681546.1:n.876-44_876-38del
ENST00000681746.1:c.1056-44_1056-38del	ENSP00000505959.1:n.1056-44_1056-38del
ENST00000320005.5:c.1056-44_1056-38del	ENSP00000316605.5:n.1056-44_1056-38del
NM_019098.4:c.1056-44_1056-38del	NP_061971.3:n.1056-44_1056-38del
XM_011517138.1:c.642-44_642-38del	XP_011515440.1:n.642-44_642-38del
XM_011517138.2:c.642-44_642-38del	XP_011515440.1:n.642-44_642-38del
NM_019098.5:c.1056-44_1056-38del MANE Select	NP_061971.3:n.1056-44_1056-38del