Canonical Allele Identifier: CA2781156153
Gene: CNGB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86667144dup , CM000670.2:g.86667144dup GRCh38
NC_000008.10:g.87679372dup , CM000670.1:g.87679372dup GRCh37
NC_000008.9:g.87748488dup NCBI36
NG_016980.1:g.81532dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.644-11dup MANE Select ENSP00000316605.5:n.644-11dup
ENST00000681746.1:c.644-11dup ENSP00000505959.1:n.644-11dup
ENST00000320005.5:c.644-11dup ENSP00000316605.5:n.644-11dup
NM_019098.4:c.644-11dup NP_061971.3:n.644-11dup
XM_011517138.1:c.230-11dup XP_011515440.1:n.230-11dup
XM_011517138.2:c.230-11dup XP_011515440.1:n.230-11dup
NM_019098.5:c.644-11dup MANE Select NP_061971.3:n.644-11dup