Canonical Allele Identifier: CA623737888

Gene: GAN

Linked Data

• dbSNP Id: rs1350666299
• gnomAD v2: 16-81399053-AG-A
• gnomAD v4: 16-81365448-AG-A
• MyVariant Identifiers: chr16:g.81399054del (hg19) ; chr16:g.81365449del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81365449del , CM000678.2:g.81365449del	GRCh38
NC_000016.9:g.81399054del , CM000678.1:g.81399054del	GRCh37
NC_000016.8:g.79956555del	NCBI36
NG_009007.1:g.55484del , LRG_242:g.55484del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*1181del	ENSP00000498114.1:n.*1181del
ENST00000648994.2:c.1473del MANE Select	ENSP00000497351.1:p.Lys491AsnfsTer?
ENST00000650388.1:c.1007del	ENSP00000498081.1:n.1007del
ENST00000567335.1:n.31del
ENST00000568107.2:c.1473del	ENSP00000476795.1:p.Lys491AsnfsTer?
NM_022041.3:c.1473del , LRG_242t1:c.1473del	NP_071324.1:p.Lys491AsnfsTer?
XM_017023734.1:c.834del	XP_016879223.1:p.Lys278AsnfsTer?
NM_001377486.1:c.834del	NP_001364415.1:p.Lys278AsnfsTer?
NM_022041.4:c.1473del MANE Select	NP_071324.1:p.Lys491AsnfsTer?