Canonical Allele Identifier: CA2237033471
Gene: GAN HGNC NCBI

Linked Data

ClinVar Variation Id: 2440411
ClinVar RCV Id: RCV003145792
dbSNP Id: rs1910429809
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81354748del , CM000678.2:g.81354748del GRCh38
NC_000016.9:g.81388353del , CM000678.1:g.81388353del GRCh37
NC_000016.8:g.79945854del NCBI36
NG_009007.1:g.44783del , LRG_242:g.44783del

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*334del ENSP00000498114.1:n.*334del
ENST00000648994.2:c.626del MANE Select ENSP00000497351.1:p.Ile209LysfsTer6
ENST00000650388.1:c.168-2037del ENSP00000498081.1:n.168-2037del
ENST00000674788.1:n.751del
ENST00000568107.2:c.626del ENSP00000476795.1:p.Ile209LysfsTer6
NM_022041.3:c.626del , LRG_242t1:c.626del NP_071324.1:p.Ile209LysfsTer6
XM_017023734.1:c.-14del XP_016879223.1:n.-14del
NM_001377486.1:c.-14del NP_001364415.1:n.-14del
NM_022041.4:c.626del MANE Select NP_071324.1:p.Ile209LysfsTer6
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