Canonical Allele Identifier: CA2507735761
Gene: GAN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81354721_81354722insGTAGTGCAAAG , CM000678.2:g.81354721_81354722insGTAGTGCAAAG GRCh38
NC_000016.9:g.81388326_81388327insGTAGTGCAAAG , CM000678.1:g.81388326_81388327insGTAGTGCAAAG GRCh37
NC_000016.8:g.79945827_79945828insGTAGTGCAAAG NCBI36
NG_009007.1:g.44756_44757insGTAGTGCAAAG , LRG_242:g.44756_44757insGTAGTGCAAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*307_*308insGTAGTGCAAAG ENSP00000498114.1:n.*307_*308insGTAGTGCAAAG
ENST00000648994.2:c.599_600insGTAGTGCAAAG MANE Select ENSP00000497351.1:p.Ile200MetfsTer2
ENST00000650388.1:c.168-2064_168-2063insGTAGTGCAAAG ENSP00000498081.1:n.168-2064_168-2063insGTAGTGCAAAG
ENST00000674788.1:n.724_725insGTAGTGCAAAG
ENST00000568107.2:c.599_600insGTAGTGCAAAG ENSP00000476795.1:p.Ile200MetfsTer2
NM_022041.3:c.599_600insGTAGTGCAAAG , LRG_242t1:c.599_600insGTAGTGCAAAG NP_071324.1:p.Ile200MetfsTer2
XM_017023734.1:c.-41_-40insGTAGTGCAAAG XP_016879223.1:n.-41_-40insGTAGTGCAAAG
NM_001377486.1:c.-41_-40insGTAGTGCAAAG NP_001364415.1:n.-41_-40insGTAGTGCAAAG
NM_022041.4:c.599_600insGTAGTGCAAAG MANE Select NP_071324.1:p.Ile200MetfsTer2