Canonical Allele Identifier: CA521048650
Gene: PADI6 HGNC NCBI

Linked Data

dbSNP Id: rs1327062526
gnomAD v2: 1-17727818-A-AT
MyVariant Identifiers: chr1:g.17727818_17727819insT (hg19) chr1:g.17401322_17401323insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17401322_17401323insT , CM000663.2:g.17401322_17401323insT GRCh38
NC_000001.10:g.17727818_17727819insT , CM000663.1:g.17727818_17727819insT GRCh37
NC_000001.9:g.17600405_17600406insT NCBI36
NG_032943.1:g.34077_34078insT
NG_032943.2:g.34077_34078insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000619609.1:c.1969_1970insT MANE Select ENSP00000483125.1:p.Lys657IlefsTer7
NM_207421.4:c.1969_1970insT MANE Select NP_997304.3:p.Lys657IlefsTer7
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