Canonical Allele Identifier: CA1799781626
Gene: CNGB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86574120_86574123delinsATAT , CM000670.2:g.86574120_86574123delinsATAT GRCh38
NC_000008.10:g.87586348_87586351delinsATAT , CM000670.1:g.87586348_87586351delinsATAT GRCh37
NC_000008.9:g.87655464_87655467delinsATAT NCBI36
NG_016980.1:g.174553_174556delinsATAT

Transcript Alleles

HGVS Amino-acid change
ENST00000681746.1:c.*2522_*2525delinsATAT ENSP00000505959.1:n.*2522_*2525delinsATAT
ENST00000320005.5:c.*1681_*1684delinsATAT ENSP00000316605.5:n.*1681_*1684delinsATAT
ENST00000517327.5:c.276+4566_276+4569delinsATAT ENSP00000428329.1:n.276+4566_276+4569delinsATAT
NM_019098.4:c.*1681_*1684delinsATAT NP_061971.3:n.*1681_*1684delinsATAT
XM_011517138.1:c.*1681_*1684delinsATAT XP_011515440.1:n.*1681_*1684delinsATAT
XM_011517138.2:c.*1681_*1684delinsATAT XP_011515440.1:n.*1681_*1684delinsATAT