Canonical Allele Identifier: CA1799825594

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86643715_86643724delinsTAATCAATAA , CM000670.2:g.86643715_86643724delinsTAATCAATAA	GRCh38
NC_000008.10:g.87655943_87655952delinsTAATCAATAA , CM000670.1:g.87655943_87655952delinsTAATCAATAA	GRCh37
NC_000008.9:g.87725059_87725068delinsTAATCAATAA	NCBI36
NG_016980.1:g.104952_104961delinsTTATTGATTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.1178+27_1178+36delinsTTATTGATTA MANE Select	ENSP00000316605.5:n.1178+27_1178+36delinsTTATTGATTA
ENST00000681546.1:n.998+27_998+36delinsTTATTGATTA
ENST00000681746.1:c.1178+27_1178+36delinsTTATTGATTA	ENSP00000505959.1:n.1178+27_1178+36delinsTTATTGATTA
ENST00000320005.5:c.1178+27_1178+36delinsTTATTGATTA	ENSP00000316605.5:n.1178+27_1178+36delinsTTATTGATTA
NM_019098.4:c.1178+27_1178+36delinsTTATTGATTA	NP_061971.3:n.1178+27_1178+36delinsTTATTGATTA
XM_011517138.1:c.764+27_764+36delinsTTATTGATTA	XP_011515440.1:n.764+27_764+36delinsTTATTGATTA
XM_011517138.2:c.764+27_764+36delinsTTATTGATTA	XP_011515440.1:n.764+27_764+36delinsTTATTGATTA
NM_019098.5:c.1178+27_1178+36delinsTTATTGATTA MANE Select	NP_061971.3:n.1178+27_1178+36delinsTTATTGATTA