Canonical Allele Identifier: CA2781156238
Gene: CNGB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86668176_86668177insACA , CM000670.2:g.86668176_86668177insACA GRCh38
NC_000008.10:g.87680404_87680405insACA , CM000670.1:g.87680404_87680405insACA GRCh37
NC_000008.9:g.87749520_87749521insACA NCBI36
NG_016980.1:g.80499_80500insTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.494-9_494-8insTGT MANE Select ENSP00000316605.5:n.494-9_494-8insTGT
ENST00000680314.1:n.255-9_255-8insTGT
ENST00000681746.1:c.494-9_494-8insTGT ENSP00000505959.1:n.494-9_494-8insTGT
ENST00000320005.5:c.494-9_494-8insTGT ENSP00000316605.5:n.494-9_494-8insTGT
NM_019098.4:c.494-9_494-8insTGT NP_061971.3:n.494-9_494-8insTGT
XM_011517138.1:c.80-9_80-8insTGT XP_011515440.1:n.80-9_80-8insTGT
XM_011517138.2:c.80-9_80-8insTGT XP_011515440.1:n.80-9_80-8insTGT
NM_019098.5:c.494-9_494-8insTGT MANE Select NP_061971.3:n.494-9_494-8insTGT