Canonical Allele Identifier: CA2634488271

Gene: GAN

Linked Data

• gnomAD v4: 16-81357828-A-AGCGAT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81357836_81357840dup , CM000678.2:g.81357836_81357840dup	GRCh38
NC_000016.9:g.81391441_81391445dup , CM000678.1:g.81391441_81391445dup	GRCh37
NC_000016.8:g.79948942_79948946dup	NCBI36
NG_009007.1:g.47871_47875dup , LRG_242:g.47871_47875dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*586_*590dup	ENSP00000498114.1:n.*586_*590dup
ENST00000648994.2:c.878_882dup MANE Select	ENSP00000497351.1:p.Met295AspfsTer20
ENST00000650388.1:c.412_416dup	ENSP00000498081.1:n.412_416dup
ENST00000568107.2:c.878_882dup	ENSP00000476795.1:p.Met295AspfsTer20
NM_022041.3:c.878_882dup , LRG_242t1:c.878_882dup	NP_071324.1:p.Met295AspfsTer20
XM_017023734.1:c.239_243dup	XP_016879223.1:p.Met82AspfsTer20
NM_001377486.1:c.239_243dup	NP_001364415.1:p.Met82AspfsTer20
NM_022041.4:c.878_882dup MANE Select	NP_071324.1:p.Met295AspfsTer20