Canonical Allele Identifier: CA1799826118

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86667935_86667936delinsTA , CM000670.2:g.86667935_86667936delinsTA	GRCh38
NC_000008.10:g.87680163_87680164delinsTA , CM000670.1:g.87680163_87680164delinsTA	GRCh37
NC_000008.9:g.87749279_87749280delinsTA	NCBI36
NG_016980.1:g.80740_80741delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.643+83_643+84delinsTA MANE Select	ENSP00000316605.5:n.643+83_643+84delinsTA
ENST00000681746.1:c.643+83_643+84delinsTA	ENSP00000505959.1:n.643+83_643+84delinsTA
ENST00000320005.5:c.643+83_643+84delinsTA	ENSP00000316605.5:n.643+83_643+84delinsTA
NM_019098.4:c.643+83_643+84delinsTA	NP_061971.3:n.643+83_643+84delinsTA
XM_011517138.1:c.229+83_229+84delinsTA	XP_011515440.1:n.229+83_229+84delinsTA
XM_011517138.2:c.229+83_229+84delinsTA	XP_011515440.1:n.229+83_229+84delinsTA
NM_019098.5:c.643+83_643+84delinsTA MANE Select	NP_061971.3:n.643+83_643+84delinsTA