Canonical Allele Identifier: CA2634487897
Gene: GAN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81354477del , CM000678.2:g.81354477del GRCh38
NC_000016.9:g.81388082del , CM000678.1:g.81388082del GRCh37
NC_000016.8:g.79945583del NCBI36
NG_009007.1:g.44512del , LRG_242:g.44512del

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*63del ENSP00000498114.1:n.*63del
ENST00000648994.2:c.355del MANE Select ENSP00000497351.1:p.Thr119ProfsTer?
ENST00000650388.1:c.168-2308del ENSP00000498081.1:n.168-2308del
ENST00000674788.1:n.480del
ENST00000568107.2:c.355del ENSP00000476795.1:p.Thr119ProfsTer?
NM_022041.3:c.355del , LRG_242t1:c.355del NP_071324.1:p.Thr119ProfsTer?
XM_017023734.1:c.-285del XP_016879223.1:n.-285del
NM_001377486.1:c.-285del NP_001364415.1:n.-285del
NM_022041.4:c.355del MANE Select NP_071324.1:p.Thr119ProfsTer?