Canonical Allele Identifier: CA2576072677

Gene: GAN

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81357836_81357840del , CM000678.2:g.81357836_81357840del	GRCh38
NC_000016.9:g.81391441_81391445del , CM000678.1:g.81391441_81391445del	GRCh37
NC_000016.8:g.79948942_79948946del	NCBI36
NG_009007.1:g.47871_47875del , LRG_242:g.47871_47875del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*586_*590del	ENSP00000498114.1:n.*586_*590del
ENST00000648994.2:c.878_882del MANE Select	ENSP00000497351.1:p.Arg293HisfsTer6
ENST00000650388.1:c.412_416del	ENSP00000498081.1:n.412_416del
ENST00000568107.2:c.878_882del	ENSP00000476795.1:p.Arg293HisfsTer6
NM_022041.3:c.878_882del , LRG_242t1:c.878_882del	NP_071324.1:p.Arg293HisfsTer6
XM_017023734.1:c.239_243del	XP_016879223.1:p.Arg80HisfsTer6
NM_001377486.1:c.239_243del	NP_001364415.1:p.Arg80HisfsTer6
NM_022041.4:c.878_882del MANE Select	NP_071324.1:p.Arg293HisfsTer6