Canonical Allele Identifier: CA623739710
Gene: GAN HGNC NCBI

Linked Data

dbSNP Id: rs1555508243
gnomAD v2: 16-81348584-C-CCCGGGGGCTCCAGCTTCTGCTCAGAGCGCGGAGAGCCGGG
gnomAD v3: 16-81314979-C-CCCGGGGGCTCCAGCTTCTGCTCAGAGCGCGGAGAGCCGGG
gnomAD v4: 16-81314979-C-CCCGGGGGCTCCAGCTTCTGCTCAGAGCGCGGAGAGCCGGG
MyVariant Identifiers: chr16:g.81348584_81348585insCCGGGGGCTCCAGCTTCTGCTCAGAGCGCGGAGAGCCGGG (hg19) chr16:g.81314979_81314980insCCGGGGGCTCCAGCTTCTGCTCAGAGCGCGGAGAGCCGGG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81314985_81315024dup , CM000678.2:g.81314985_81315024dup GRCh38
NC_000016.9:g.81348590_81348629dup , CM000678.1:g.81348590_81348629dup GRCh37
NC_000016.8:g.79906091_79906130dup NCBI36
NG_009007.1:g.5020_5059dup , LRG_242:g.5020_5059dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.-129_-90dup ENSP00000498114.1:n.-129_-90dup
ENST00000648994.2:c.-129_-90dup MANE Select ENSP00000497351.1:n.-129_-90dup
ENST00000568107.2:c.-129_-90dup ENSP00000476795.1:n.-129_-90dup
NM_022041.3:c.-129_-90dup , LRG_242t1:c.-129_-90dup NP_071324.1:n.-129_-90dup
XM_017023734.1:c.-653_-614dup XP_016879223.1:n.-653_-614dup
NM_001377486.1:c.-653_-614dup NP_001364415.1:n.-653_-614dup
NM_022041.4:c.-129_-90dup MANE Select NP_071324.1:n.-129_-90dup
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