Canonical Allele Identifier: CA2781149816

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86632956_86632961del , CM000670.2:g.86632956_86632961del	GRCh38
NC_000008.10:g.87645184_87645189del , CM000670.1:g.87645184_87645189del	GRCh37
NC_000008.9:g.87714300_87714305del	NCBI36
NG_016980.1:g.115715_115720del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.1179-68_1179-63del MANE Select	ENSP00000316605.5:n.1179-68_1179-63del
ENST00000681546.1:n.999-68_999-63del
ENST00000681746.1:c.1179-68_1179-63del	ENSP00000505959.1:n.1179-68_1179-63del
ENST00000320005.5:c.1179-68_1179-63del	ENSP00000316605.5:n.1179-68_1179-63del
NM_019098.4:c.1179-68_1179-63del	NP_061971.3:n.1179-68_1179-63del
XM_011517138.1:c.765-68_765-63del	XP_011515440.1:n.765-68_765-63del
XM_011517138.2:c.765-68_765-63del	XP_011515440.1:n.765-68_765-63del
NM_019098.5:c.1179-68_1179-63del MANE Select	NP_061971.3:n.1179-68_1179-63del