Canonical Allele Identifier: CA1799825698

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86643780_86643781delinsAG , CM000670.2:g.86643780_86643781delinsAG	GRCh38
NC_000008.10:g.87656008_87656009delinsAG , CM000670.1:g.87656008_87656009delinsAG	GRCh37
NC_000008.9:g.87725124_87725125delinsAG	NCBI36
NG_016980.1:g.104895_104896delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.1148_1149delinsCT MANE Select	ENSP00000316605.5:p.Thr383=
ENST00000681546.1:n.968_969delinsCT
ENST00000681746.1:c.1148_1149delinsCT	ENSP00000505959.1:p.Thr383=
ENST00000320005.5:c.1148_1149delinsCT	ENSP00000316605.5:p.Thr383=
NM_019098.4:c.1148_1149delinsCT	NP_061971.3:p.Thr383=
XM_011517138.1:c.734_735delinsCT	XP_011515440.1:p.Thr245=
XM_011517138.2:c.734_735delinsCT	XP_011515440.1:p.Thr245=
NM_019098.5:c.1148_1149delinsCT MANE Select	NP_061971.3:p.Thr383=