Canonical Allele Identifier: CA2781156487
Gene: CNGB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86671167_86671168insACA , CM000670.2:g.86671167_86671168insACA GRCh38
NC_000008.10:g.87683395_87683396insACA , CM000670.1:g.87683395_87683396insACA GRCh37
NC_000008.9:g.87752511_87752512insACA NCBI36
NG_016980.1:g.77508_77509insTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.339-70_339-69insTGT MANE Select ENSP00000316605.5:n.339-70_339-69insTGT
ENST00000680314.1:n.100-70_100-69insTGT
ENST00000681746.1:c.339-70_339-69insTGT ENSP00000505959.1:n.339-70_339-69insTGT
ENST00000320005.5:c.339-70_339-69insTGT ENSP00000316605.5:n.339-70_339-69insTGT
NM_019098.4:c.339-70_339-69insTGT NP_061971.3:n.339-70_339-69insTGT
XM_011517138.1:c.-76-70_-76-69insTGT XP_011515440.1:n.-76-70_-76-69insTGT
XM_011517138.2:c.-76-70_-76-69insTGT XP_011515440.1:n.-76-70_-76-69insTGT
NM_019098.5:c.339-70_339-69insTGT MANE Select NP_061971.3:n.339-70_339-69insTGT