Canonical Allele Identifier: CA521450304
Gene: PADI6 HGNC NCBI

Linked Data

dbSNP Id: rs1455658365
gnomAD v2: 1-17720801-TG-T
MyVariant Identifiers: chr1:g.17720802del (hg19) chr1:g.17394306del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17394307del , CM000663.2:g.17394307del GRCh38
NC_000001.10:g.17720803del , CM000663.1:g.17720803del GRCh37
NC_000001.9:g.17593390del NCBI36
NG_032943.1:g.27062del
NG_032943.2:g.27062del

Transcript Alleles

HGVS Amino-acid Change
ENST00000619609.1:c.1190del MANE Select ENSP00000483125.1:p.Gly397ValfsTer5
NM_207421.4:c.1190del MANE Select NP_997304.3:p.Gly397ValfsTer5
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