Canonical Allele Identifier: CA1799825466

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86643492_86643493delinsAT , CM000670.2:g.86643492_86643493delinsAT	GRCh38
NC_000008.10:g.87655720_87655721delinsAT , CM000670.1:g.87655720_87655721delinsAT	GRCh37
NC_000008.9:g.87724836_87724837delinsAT	NCBI36
NG_016980.1:g.105183_105184delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.1178+258_1178+259delinsAT MANE Select	ENSP00000316605.5:n.1178+258_1178+259delinsAT
ENST00000681546.1:n.998+258_998+259delinsAT
ENST00000681746.1:c.1178+258_1178+259delinsAT	ENSP00000505959.1:n.1178+258_1178+259delinsAT
ENST00000320005.5:c.1178+258_1178+259delinsAT	ENSP00000316605.5:n.1178+258_1178+259delinsAT
NM_019098.4:c.1178+258_1178+259delinsAT	NP_061971.3:n.1178+258_1178+259delinsAT
XM_011517138.1:c.764+258_764+259delinsAT	XP_011515440.1:n.764+258_764+259delinsAT
XM_011517138.2:c.764+258_764+259delinsAT	XP_011515440.1:n.764+258_764+259delinsAT
NM_019098.5:c.1178+258_1178+259delinsAT MANE Select	NP_061971.3:n.1178+258_1178+259delinsAT