Canonical Allele Identifier: CA2695223706

Gene: GAN

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81354659dup , CM000678.2:g.81354659dup	GRCh38
NC_000016.9:g.81388264dup , CM000678.1:g.81388264dup	GRCh37
NC_000016.8:g.79945765dup	NCBI36
NG_009007.1:g.44694dup , LRG_242:g.44694dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*245dup	ENSP00000498114.1:n.*245dup
ENST00000648994.2:c.537dup MANE Select	ENSP00000497351.1:p.Glu180ArgfsTer6
ENST00000650388.1:c.168-2126dup	ENSP00000498081.1:n.168-2126dup
ENST00000674788.1:n.662dup
ENST00000568107.2:c.537dup	ENSP00000476795.1:p.Glu180ArgfsTer6
NM_022041.3:c.537dup , LRG_242t1:c.537dup	NP_071324.1:p.Glu180ArgfsTer6
XM_017023734.1:c.-103dup	XP_016879223.1:n.-103dup
NM_001377486.1:c.-103dup	NP_001364415.1:n.-103dup
NM_022041.4:c.537dup MANE Select	NP_071324.1:p.Glu180ArgfsTer6