Canonical Allele Identifier: CA2634487899

Gene: GAN

Linked Data

• gnomAD v4: 16-81354535-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81354536del , CM000678.2:g.81354536del	GRCh38
NC_000016.9:g.81388141del , CM000678.1:g.81388141del	GRCh37
NC_000016.8:g.79945642del	NCBI36
NG_009007.1:g.44571del , LRG_242:g.44571del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*122del	ENSP00000498114.1:n.*122del
ENST00000648994.2:c.414del MANE Select	ENSP00000497351.1:p.Asp139ThrfsTer?
ENST00000650388.1:c.168-2249del	ENSP00000498081.1:n.168-2249del
ENST00000674788.1:n.539del
ENST00000568107.2:c.414del	ENSP00000476795.1:p.Asp139ThrfsTer?
NM_022041.3:c.414del , LRG_242t1:c.414del	NP_071324.1:p.Asp139ThrfsTer?
XM_017023734.1:c.-226del	XP_016879223.1:n.-226del
NM_001377486.1:c.-226del	NP_001364415.1:n.-226del
NM_022041.4:c.414del MANE Select	NP_071324.1:p.Asp139ThrfsTer?