Canonical Allele Identifier: CA915949360
Gene: GAN HGNC NCBI

Linked Data

ClinVar Variation Id: 637447
ClinVar RCV Id: RCV000789635
dbSNP Id: rs1597401516
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81354465_81354482del , CM000678.2:g.81354465_81354482del GRCh38
NC_000016.9:g.81388070_81388087del , CM000678.1:g.81388070_81388087del GRCh37
NC_000016.8:g.79945571_79945588del NCBI36
NG_009007.1:g.44500_44517del , LRG_242:g.44500_44517del

Transcript Alleles

HGVS Amino-acid change
ENST00000648349.2:c.*51_*68del ENSP00000498114.1:n.*51_*68del
ENST00000648994.2:c.343_360del MANE Select ENSP00000497351.1:p.Thr115_Leu120del
ENST00000650388.1:c.168-2320_168-2303del ENSP00000498081.1:n.168-2320_168-2303del
ENST00000674788.1:n.468_485del
ENST00000568107.2:c.343_360del ENSP00000476795.1:p.Thr115_Leu120del
NM_022041.3:c.343_360del , LRG_242t1:c.343_360del NP_071324.1:p.Thr115_Leu120del
XM_017023734.1:c.-297_-280del XP_016879223.1:n.-297_-280del
NM_001377486.1:c.-297_-280del NP_001364415.1:n.-297_-280del
NM_022041.4:c.343_360del MANE Select NP_071324.1:p.Thr115_Leu120del
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