Canonical Allele Identifier: CA16616977
Gene: GATAD2B HGNC NCBI

Linked Data

ClinVar Variation Id: 423772
ClinVar RCV Id: RCV000484083
dbSNP Id: rs1064796622
MyVariant Identifiers: chr1:g.153785731del (hg19) chr1:g.153813255del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.153813256del , CM000663.2:g.153813256del GRCh38
NC_000001.10:g.153785732del , CM000663.1:g.153785732del GRCh37
NC_000001.9:g.152052356del NCBI36
NG_050988.1:g.114721del

Transcript Alleles

HGVS Amino-acid change
ENST00000368655.5:c.1414del MANE Select ENSP00000357644.4:p.Glu472AsnfsTer?
ENST00000368655.4:c.1414del ENSP00000357644.4:p.Glu472AsnfsTer?
ENST00000634408.1:c.1366del ENSP00000489595.1:p.Glu456AsnfsTer?
ENST00000634544.1:c.1414del ENSP00000489184.1:p.Glu472AsnfsTer?
ENST00000634564.1:c.668del
NM_020699.2:c.1414del NP_065750.1:p.Glu472AsnfsTer?
XM_005245364.3:c.1414del XP_005245421.1:p.Glu472AsnfsTer?
XM_006711469.2:c.1414del XP_006711532.1:p.Glu472AsnfsTer?
XM_011509808.1:c.1414del XP_011508110.1:p.Glu472AsnfsTer?
NM_020699.3:c.1414del NP_065750.1:p.Glu472AsnfsTer?
XM_005245364.4:c.1414del XP_005245421.1:p.Glu472AsnfsTer?
XM_024448621.1:c.1414del XP_024304389.1:p.Glu472AsnfsTer?
NM_020699.4:c.1414del MANE Select NP_065750.1:p.Glu472AsnfsTer?
Search 100 bp 5'
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