Canonical Allele Identifier: CA915949361
Gene: GAN HGNC NCBI

Linked Data

ClinVar Variation Id: 817947
ClinVar RCV Id: RCV001009180
dbSNP Id: rs1597401735
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81354752_81354755del , CM000678.2:g.81354752_81354755del GRCh38
NC_000016.9:g.81388357_81388360del , CM000678.1:g.81388357_81388360del GRCh37
NC_000016.8:g.79945858_79945861del NCBI36
NG_009007.1:g.44787_44790del , LRG_242:g.44787_44790del

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*338_*341del ENSP00000498114.1:n.*338_*341del
ENST00000648994.2:c.630_633del MANE Select ENSP00000497351.1:p.Lys211SerfsTer3
ENST00000650388.1:c.168-2033_168-2030del ENSP00000498081.1:n.168-2033_168-2030del
ENST00000674788.1:n.755_758del
ENST00000568107.2:c.630_633del ENSP00000476795.1:p.Lys211SerfsTer3
NM_022041.3:c.630_633del , LRG_242t1:c.630_633del NP_071324.1:p.Lys211SerfsTer3
XM_017023734.1:c.-10_-7del XP_016879223.1:n.-10_-7del
NM_001377486.1:c.-10_-7del NP_001364415.1:n.-10_-7del
NM_022041.4:c.630_633del MANE Select NP_071324.1:p.Lys211SerfsTer3
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