Canonical Allele Identifier: CA2576072613
Gene: GAN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81354750del , CM000678.2:g.81354750del GRCh38
NC_000016.9:g.81388355del , CM000678.1:g.81388355del GRCh37
NC_000016.8:g.79945856del NCBI36
NG_009007.1:g.44785del , LRG_242:g.44785del

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*336del ENSP00000498114.1:n.*336del
ENST00000648994.2:c.628del MANE Select ENSP00000497351.1:p.Arg210GlufsTer5
ENST00000650388.1:c.168-2035del ENSP00000498081.1:n.168-2035del
ENST00000674788.1:n.753del
ENST00000568107.2:c.628del ENSP00000476795.1:p.Arg210GlufsTer5
NM_022041.3:c.628del , LRG_242t1:c.628del NP_071324.1:p.Arg210GlufsTer5
XM_017023734.1:c.-12del XP_016879223.1:n.-12del
NM_001377486.1:c.-12del NP_001364415.1:n.-12del
NM_022041.4:c.628del MANE Select NP_071324.1:p.Arg210GlufsTer5