Canonical Allele Identifier: CA2579200030

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86643739del , CM000670.2:g.86643739del	GRCh38
NC_000008.10:g.87655967del , CM000670.1:g.87655967del	GRCh37
NC_000008.9:g.87725083del	NCBI36
NG_016980.1:g.104940del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.1178+15del MANE Select	ENSP00000316605.5:n.1178+15del
ENST00000681546.1:n.998+15del
ENST00000681746.1:c.1178+15del	ENSP00000505959.1:n.1178+15del
ENST00000320005.5:c.1178+15del	ENSP00000316605.5:n.1178+15del
NM_019098.4:c.1178+15del	NP_061971.3:n.1178+15del
XM_011517138.1:c.764+15del	XP_011515440.1:n.764+15del
XM_011517138.2:c.764+15del	XP_011515440.1:n.764+15del
NM_019098.5:c.1178+15del MANE Select	NP_061971.3:n.1178+15del