Canonical Allele Identifier: CA2781154197
Gene: CNGB3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86576051_86576052insAGG , CM000670.2:g.86576051_86576052insAGG GRCh38
NC_000008.10:g.87588279_87588280insAGG , CM000670.1:g.87588279_87588280insAGG GRCh37
NC_000008.9:g.87657395_87657396insAGG NCBI36
NG_016980.1:g.172624_172625insCCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.2182_2183insCCT MANE Select ENSP00000316605.5:p.Lys728ThrfsTer2
ENST00000681546.1:n.2002_2003insCCT
ENST00000681746.1:c.*593_*594insCCT ENSP00000505959.1:n.*593_*594insCCT
ENST00000320005.5:c.2182_2183insCCT ENSP00000316605.5:p.Lys728ThrfsTer2
ENST00000517327.5:c.276+2637_276+2638insCCT ENSP00000428329.1:n.276+2637_276+2638insCCT
NM_019098.4:c.2182_2183insCCT NP_061971.3:p.Lys728ThrfsTer2
XM_011517138.1:c.1768_1769insCCT XP_011515440.1:p.Lys590ThrfsTer2
XM_011517138.2:c.1768_1769insCCT XP_011515440.1:p.Lys590ThrfsTer2
NM_019098.5:c.2182_2183insCCT MANE Select NP_061971.3:p.Lys728ThrfsTer2
Search 100 bp 5'
Search 100 bp 3'