Canonical Allele Identifier: CA2781154188
Gene: CNGB3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86576033_86576034insAGAT , CM000670.2:g.86576033_86576034insAGAT GRCh38
NC_000008.10:g.87588261_87588262insAGAT , CM000670.1:g.87588261_87588262insAGAT GRCh37
NC_000008.9:g.87657377_87657378insAGAT NCBI36
NG_016980.1:g.172642_172643insATCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.2200_2201insATCT MANE Select ENSP00000316605.5:p.Gly734AspfsTer6
ENST00000681546.1:n.2020_2021insATCT
ENST00000681746.1:c.*611_*612insATCT ENSP00000505959.1:n.*611_*612insATCT
ENST00000320005.5:c.2200_2201insATCT ENSP00000316605.5:p.Gly734AspfsTer6
ENST00000517327.5:c.276+2655_276+2656insATCT ENSP00000428329.1:n.276+2655_276+2656insATCT
NM_019098.4:c.2200_2201insATCT NP_061971.3:p.Gly734AspfsTer6
XM_011517138.1:c.1786_1787insATCT XP_011515440.1:p.Gly596AspfsTer6
XM_011517138.2:c.1786_1787insATCT XP_011515440.1:p.Gly596AspfsTer6
NM_019098.5:c.2200_2201insATCT MANE Select NP_061971.3:p.Gly734AspfsTer6
Search 100 bp 5'
Search 100 bp 3'