Canonical Allele Identifier: CA2576072612
Gene: GAN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81354720del , CM000678.2:g.81354720del GRCh38
NC_000016.9:g.81388325del , CM000678.1:g.81388325del GRCh37
NC_000016.8:g.79945826del NCBI36
NG_009007.1:g.44755del , LRG_242:g.44755del

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*306del ENSP00000498114.1:n.*306del
ENST00000648994.2:c.598del MANE Select ENSP00000497351.1:p.Ile200PhefsTer4
ENST00000650388.1:c.168-2065del ENSP00000498081.1:n.168-2065del
ENST00000674788.1:n.723del
ENST00000568107.2:c.598del ENSP00000476795.1:p.Ile200PhefsTer4
NM_022041.3:c.598del , LRG_242t1:c.598del NP_071324.1:p.Ile200PhefsTer4
XM_017023734.1:c.-42del XP_016879223.1:n.-42del
NM_001377486.1:c.-42del NP_001364415.1:n.-42del
NM_022041.4:c.598del MANE Select NP_071324.1:p.Ile200PhefsTer4