Canonical Allele Identifier: CA2533640018
Gene: CNGB3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86643822_86643823insAG , CM000670.2:g.86643822_86643823insAG GRCh38
NC_000008.10:g.87656050_87656051insAG , CM000670.1:g.87656050_87656051insAG GRCh37
NC_000008.9:g.87725166_87725167insAG NCBI36
NG_016980.1:g.104853_104854insCT

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.1106_1107insCT MANE Select ENSP00000316605.5:p.Val370LeufsTer27
ENST00000681546.1:n.926_927insCT
ENST00000681746.1:c.1106_1107insCT ENSP00000505959.1:p.Val370LeufsTer27
ENST00000320005.5:c.1106_1107insCT ENSP00000316605.5:p.Val370LeufsTer27
NM_019098.4:c.1106_1107insCT NP_061971.3:p.Val370LeufsTer27
XM_011517138.1:c.692_693insCT XP_011515440.1:p.Val232LeufsTer27
XM_011517138.2:c.692_693insCT XP_011515440.1:p.Val232LeufsTer27
NM_019098.5:c.1106_1107insCT MANE Select NP_061971.3:p.Val370LeufsTer27
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