Canonical Allele Identifier: CA570097311
Gene: ENPP1 HGNC NCBI

Linked Data

dbSNP Id: rs1298989560
gnomAD v2: 6-132172236-G-GT
gnomAD v4: 6-131851096-G-GT
MyVariant Identifiers: chr6:g.132172236_132172237insT (hg19) chr6:g.131851096_131851097insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131851098dup , CM000668.2:g.131851098dup GRCh38
NC_000006.11:g.132172238dup , CM000668.1:g.132172238dup GRCh37
NC_000006.10:g.132213931dup NCBI36
NG_008206.1:g.48083dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000647893.1:c.431-44dup MANE Select ENSP00000498074.1:n.431-44dup
ENST00000650147.1:c.109-44dup
ENST00000650437.1:c.108+992dup
ENST00000360971.6:c.431-44dup ENSP00000354238.2:n.431-44dup
ENST00000486853.1:n.451-44dup
ENST00000513998.5:c.431-44dup ENSP00000422424.1:n.431-44dup
NM_006208.2:c.431-44dup NP_006199.2:n.431-44dup
NM_006208.3:c.431-44dup MANE Select NP_006199.2:n.431-44dup
Search 100 bp 5'
Search 100 bp 3'