Canonical Allele Identifier: CA2634488272

Gene: GAN

Linked Data

• gnomAD v4: 16-81357847-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81357852_81357853del , CM000678.2:g.81357852_81357853del	GRCh38
NC_000016.9:g.81391457_81391458del , CM000678.1:g.81391457_81391458del	GRCh37
NC_000016.8:g.79948958_79948959del	NCBI36
NG_009007.1:g.47887_47888del , LRG_242:g.47887_47888del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*602_*603del	ENSP00000498114.1:n.*602_*603del
ENST00000648994.2:c.894_895del MANE Select	ENSP00000497351.1:p.Tyr299Ter
ENST00000650388.1:c.428_429del	ENSP00000498081.1:n.428_429del
ENST00000568107.2:c.894_895del	ENSP00000476795.1:p.Tyr299Ter
NM_022041.3:c.894_895del , LRG_242t1:c.894_895del	NP_071324.1:p.Tyr299Ter
XM_017023734.1:c.255_256del	XP_016879223.1:p.Tyr86Ter
NM_001377486.1:c.255_256del	NP_001364415.1:p.Tyr86Ter
NM_022041.4:c.894_895del MANE Select	NP_071324.1:p.Tyr299Ter