Canonical Allele Identifier: CA2237033175
Gene: GAN HGNC NCBI

Linked Data

dbSNP Id: rs1910426799
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81354673_81354674insCC , CM000678.2:g.81354673_81354674insCC GRCh38
NC_000016.9:g.81388278_81388279insCC , CM000678.1:g.81388278_81388279insCC GRCh37
NC_000016.8:g.79945779_79945780insCC NCBI36
NG_009007.1:g.44708_44709insCC , LRG_242:g.44708_44709insCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*259_*260insCC ENSP00000498114.1:n.*259_*260insCC
ENST00000648994.2:c.551_552insCC MANE Select ENSP00000497351.1:p.Glu185LeufsTer4
ENST00000650388.1:c.168-2112_168-2111insCC ENSP00000498081.1:n.168-2112_168-2111insCC
ENST00000674788.1:n.676_677insCC
ENST00000568107.2:c.551_552insCC ENSP00000476795.1:p.Glu185LeufsTer4
NM_022041.3:c.551_552insCC , LRG_242t1:c.551_552insCC NP_071324.1:p.Glu185LeufsTer4
XM_017023734.1:c.-89_-88insCC XP_016879223.1:n.-89_-88insCC
NM_001377486.1:c.-89_-88insCC NP_001364415.1:n.-89_-88insCC
NM_022041.4:c.551_552insCC MANE Select NP_071324.1:p.Glu185LeufsTer4
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