Canonical Allele Identifier: CA641686
Gene: PADI6 HGNC NCBI

Linked Data

dbSNP Id: rs756208047
ExAC: 1:17720810 C / CT
gnomAD v2: 1-17720810-C-CT
gnomAD v4: 1-17394314-C-CT
MyVariant Identifiers: chr1:g.17720810_17720811insT (hg19) chr1:g.17394314_17394315insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17394315dup , CM000663.2:g.17394315dup GRCh38
NC_000001.10:g.17720811dup , CM000663.1:g.17720811dup GRCh37
NC_000001.9:g.17593398dup NCBI36
NG_032943.1:g.27070dup
NG_032943.2:g.27070dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000619609.1:c.1198dup MANE Select ENSP00000483125.1:p.Tyr400LeufsTer7
NM_207421.4:c.1198dup MANE Select NP_997304.3:p.Tyr400LeufsTer7
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