Canonical Allele Identifier: CA623755787
Gene: GAN HGNC NCBI

Linked Data

dbSNP Id: rs1378868597
gnomAD v2: 16-81391879-C-CT
MyVariant Identifiers: chr16:g.81391879_81391880insT (hg19) chr16:g.81358274_81358275insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81358277dup , CM000678.2:g.81358277dup GRCh38
NC_000016.9:g.81391882dup , CM000678.1:g.81391882dup GRCh37
NC_000016.8:g.79949383dup NCBI36
NG_009007.1:g.48312dup , LRG_242:g.48312dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*681+346dup ENSP00000498114.1:n.*681+346dup
ENST00000648994.2:c.973+346dup MANE Select ENSP00000497351.1:n.973+346dup
ENST00000650388.1:c.507+346dup ENSP00000498081.1:n.507+346dup
ENST00000568107.2:c.973+346dup ENSP00000476795.1:n.973+346dup
NM_022041.3:c.973+346dup , LRG_242t1:c.973+346dup NP_071324.1:n.973+346dup
XM_017023734.1:c.334+346dup XP_016879223.1:n.334+346dup
NM_001377486.1:c.334+346dup NP_001364415.1:n.334+346dup
NM_022041.4:c.973+346dup MANE Select NP_071324.1:n.973+346dup
Search 100 bp 5'
Search 100 bp 3'