Canonical Allele Identifier: CA496698747

Gene: GAN

Linked Data

• ClinVar Variation Id: 2882917
• ClinVar RCV Id: RCV003611319
• dbSNP Id: rs1908992451
• gnomAD v4: 16-81315282-TGG-T
• MyVariant Identifiers: chr16:g.81348888_81348889del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81315285_81315286del , CM000678.2:g.81315285_81315286del	GRCh38
NC_000016.9:g.81348890_81348891del , CM000678.1:g.81348890_81348891del	GRCh37
NC_000016.8:g.79906391_79906392del	NCBI36
NG_009007.1:g.5320_5321del , LRG_242:g.5320_5321del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.167+5_167+6del	ENSP00000498114.1:n.167+5_167+6del
ENST00000648994.2:c.167+5_167+6del MANE Select	ENSP00000497351.1:n.167+5_167+6del
ENST00000650388.1:c.167+5_167+6del	ENSP00000498081.1:n.167+5_167+6del
ENST00000674788.1:n.292+5_292+6del
ENST00000568107.2:c.167+5_167+6del	ENSP00000476795.1:n.167+5_167+6del
NM_022041.3:c.167+5_167+6del , LRG_242t1:c.167+5_167+6del	NP_071324.1:n.167+5_167+6del
XM_017023734.1:c.-358+5_-358+6del	XP_016879223.1:n.-358+5_-358+6del
NM_001377486.1:c.-358+5_-358+6del	NP_001364415.1:n.-358+5_-358+6del
NM_022041.4:c.167+5_167+6del MANE Select	NP_071324.1:n.167+5_167+6del