Canonical Allele Identifier: CA2781156261
Gene: CNGB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86668214_86668215insAC , CM000670.2:g.86668214_86668215insAC GRCh38
NC_000008.10:g.87680442_87680443insAC , CM000670.1:g.87680442_87680443insAC GRCh37
NC_000008.9:g.87749558_87749559insAC NCBI36
NG_016980.1:g.80461_80462insGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.494-47_494-46insGT MANE Select ENSP00000316605.5:n.494-47_494-46insGT
ENST00000680314.1:n.255-47_255-46insGT
ENST00000681746.1:c.494-47_494-46insGT ENSP00000505959.1:n.494-47_494-46insGT
ENST00000320005.5:c.494-47_494-46insGT ENSP00000316605.5:n.494-47_494-46insGT
NM_019098.4:c.494-47_494-46insGT NP_061971.3:n.494-47_494-46insGT
XM_011517138.1:c.80-47_80-46insGT XP_011515440.1:n.80-47_80-46insGT
XM_011517138.2:c.80-47_80-46insGT XP_011515440.1:n.80-47_80-46insGT
NM_019098.5:c.494-47_494-46insGT MANE Select NP_061971.3:n.494-47_494-46insGT