Canonical Allele Identifier: CA2739266907
Gene: GAN HGNC NCBI

Linked Data

ClinVar Variation Id: 2808332
ClinVar RCV Id: RCV003612603

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81351621_81351628dup , CM000678.2:g.81351621_81351628dup GRCh38
NC_000016.9:g.81385226_81385233dup , CM000678.1:g.81385226_81385233dup GRCh37
NC_000016.8:g.79942727_79942734dup NCBI36
NG_009007.1:g.41656_41663dup , LRG_242:g.41656_41663dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.168-2784_168-2777dup ENSP00000498114.1:n.168-2784_168-2777dup
ENST00000648994.2:c.206_213dup MANE Select ENSP00000497351.1:p.Lys72GlnfsTer12
ENST00000650388.1:c.168-5164_168-5157dup ENSP00000498081.1:n.168-5164_168-5157dup
ENST00000674788.1:n.331_338dup
ENST00000568107.2:c.206_213dup ENSP00000476795.1:p.Lys72GlnfsTer12
NM_022041.3:c.206_213dup , LRG_242t1:c.206_213dup NP_071324.1:p.Lys72GlnfsTer12
XM_017023734.1:c.-357-2784_-357-2777dup XP_016879223.1:n.-357-2784_-357-2777dup
NM_001377486.1:c.-357-2784_-357-2777dup NP_001364415.1:n.-357-2784_-357-2777dup
NM_022041.4:c.206_213dup MANE Select NP_071324.1:p.Lys72GlnfsTer12