Canonical Allele Identifier: CA2576072611
Gene: GAN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81354423del , CM000678.2:g.81354423del GRCh38
NC_000016.9:g.81388028del , CM000678.1:g.81388028del GRCh37
NC_000016.8:g.79945529del NCBI36
NG_009007.1:g.44458del , LRG_242:g.44458del

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*9del ENSP00000498114.1:n.*9del
ENST00000648994.2:c.301del MANE Select ENSP00000497351.1:p.Thr101GlnfsTer14
ENST00000650388.1:c.168-2362del ENSP00000498081.1:n.168-2362del
ENST00000674788.1:n.426del
ENST00000568107.2:c.301del ENSP00000476795.1:p.Thr101GlnfsTer14
NM_022041.3:c.301del , LRG_242t1:c.301del NP_071324.1:p.Thr101GlnfsTer14
XM_017023734.1:c.-339del XP_016879223.1:n.-339del
NM_001377486.1:c.-339del NP_001364415.1:n.-339del
NM_022041.4:c.301del MANE Select NP_071324.1:p.Thr101GlnfsTer14