Canonical Allele Identifier: CA2634487898
Gene: GAN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81354480del , CM000678.2:g.81354480del GRCh38
NC_000016.9:g.81388085del , CM000678.1:g.81388085del GRCh37
NC_000016.8:g.79945586del NCBI36
NG_009007.1:g.44515del , LRG_242:g.44515del

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*66del ENSP00000498114.1:n.*66del
ENST00000648994.2:c.358del MANE Select ENSP00000497351.1:p.Leu120CysfsTer?
ENST00000650388.1:c.168-2305del ENSP00000498081.1:n.168-2305del
ENST00000674788.1:n.483del
ENST00000568107.2:c.358del ENSP00000476795.1:p.Leu120CysfsTer?
NM_022041.3:c.358del , LRG_242t1:c.358del NP_071324.1:p.Leu120CysfsTer?
XM_017023734.1:c.-282del XP_016879223.1:n.-282del
NM_001377486.1:c.-282del NP_001364415.1:n.-282del
NM_022041.4:c.358del MANE Select NP_071324.1:p.Leu120CysfsTer?