Canonical Allele Identifier: CA2237032544
Gene: GAN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81354491_81354492delinsGT , CM000678.2:g.81354491_81354492delinsGT GRCh38
NC_000016.9:g.81388096_81388097delinsGT , CM000678.1:g.81388096_81388097delinsGT GRCh37
NC_000016.8:g.79945597_79945598delinsGT NCBI36
NG_009007.1:g.44526_44527delinsGT , LRG_242:g.44526_44527delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*77_*78delinsGT ENSP00000498114.1:n.*77_*78delinsGT
ENST00000648994.2:c.369_370delinsGT MANE Select ENSP00000497351.1:p.Glu123=
ENST00000650388.1:c.168-2294_168-2293delinsGT ENSP00000498081.1:n.168-2294_168-2293delinsGT
ENST00000674788.1:n.494_495delinsGT
ENST00000568107.2:c.369_370delinsGT ENSP00000476795.1:p.Glu123=
NM_022041.3:c.369_370delinsGT , LRG_242t1:c.369_370delinsGT NP_071324.1:p.Glu123=
XM_017023734.1:c.-271_-270delinsGT XP_016879223.1:n.-271_-270delinsGT
NM_001377486.1:c.-271_-270delinsGT NP_001364415.1:n.-271_-270delinsGT
NM_022041.4:c.369_370delinsGT MANE Select NP_071324.1:p.Glu123=