Canonical Allele Identifier: CA2237043397
Gene: GAN HGNC NCBI

Linked Data

dbSNP Id: rs1910556702

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81358251del , CM000678.2:g.81358251del GRCh38
NC_000016.9:g.81391856del , CM000678.1:g.81391856del GRCh37
NC_000016.8:g.79949357del NCBI36
NG_009007.1:g.48286del , LRG_242:g.48286del

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*681+320del ENSP00000498114.1:n.*681+320del
ENST00000648994.2:c.973+320del MANE Select ENSP00000497351.1:n.973+320del
ENST00000650388.1:c.507+320del ENSP00000498081.1:n.507+320del
ENST00000568107.2:c.973+320del ENSP00000476795.1:n.973+320del
NM_022041.3:c.973+320del , LRG_242t1:c.973+320del NP_071324.1:n.973+320del
XM_017023734.1:c.334+320del XP_016879223.1:n.334+320del
NM_001377486.1:c.334+320del NP_001364415.1:n.334+320del
NM_022041.4:c.973+320del MANE Select NP_071324.1:n.973+320del