Canonical Allele Identifier: CA623755194
Gene: GAN HGNC NCBI

Linked Data

ClinVar Variation Id: 1024101
dbSNP Id: rs1567491395

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81354438_81354440del , CM000678.2:g.81354438_81354440del GRCh38
NC_000016.9:g.81388043_81388045del , CM000678.1:g.81388043_81388045del GRCh37
NC_000016.8:g.79945544_79945546del NCBI36
NG_009007.1:g.44473_44475del , LRG_242:g.44473_44475del

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*24_*26del ENSP00000498114.1:n.*24_*26del
ENST00000648994.2:c.316_318del MANE Select ENSP00000497351.1:p.Val106del
ENST00000650388.1:c.168-2347_168-2345del ENSP00000498081.1:n.168-2347_168-2345del
ENST00000674788.1:n.441_443del
ENST00000568107.2:c.316_318del ENSP00000476795.1:p.Val106del
NM_022041.3:c.316_318del , LRG_242t1:c.316_318del NP_071324.1:p.Val106del
XM_017023734.1:c.-324_-322del XP_016879223.1:n.-324_-322del
NM_001377486.1:c.-324_-322del NP_001364415.1:n.-324_-322del
NM_022041.4:c.316_318del MANE Select NP_071324.1:p.Val106del