Canonical Allele Identifier: CA1799830090
Gene: CNGB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86671138_86671140delinsAAG , CM000670.2:g.86671138_86671140delinsAAG GRCh38
NC_000008.10:g.87683366_87683368delinsAAG , CM000670.1:g.87683366_87683368delinsAAG GRCh37
NC_000008.9:g.87752482_87752484delinsAAG NCBI36
NG_016980.1:g.77536_77538delinsCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.339-42_339-40delinsCTT MANE Select ENSP00000316605.5:n.339-42_339-40delinsCTT
ENST00000680314.1:n.100-42_100-40delinsCTT
ENST00000681746.1:c.339-42_339-40delinsCTT ENSP00000505959.1:n.339-42_339-40delinsCTT
ENST00000320005.5:c.339-42_339-40delinsCTT ENSP00000316605.5:n.339-42_339-40delinsCTT
NM_019098.4:c.339-42_339-40delinsCTT NP_061971.3:n.339-42_339-40delinsCTT
XM_011517138.1:c.-76-42_-76-40delinsCTT XP_011515440.1:n.-76-42_-76-40delinsCTT
XM_011517138.2:c.-76-42_-76-40delinsCTT XP_011515440.1:n.-76-42_-76-40delinsCTT
NM_019098.5:c.339-42_339-40delinsCTT MANE Select NP_061971.3:n.339-42_339-40delinsCTT