Canonical Allele Identifier: CA2680366335
Gene: ENPP1 HGNC NCBI

Linked Data

gnomAD v4: 6-131851134-GT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131851137del , CM000668.2:g.131851137del GRCh38
NC_000006.11:g.132172277del , CM000668.1:g.132172277del GRCh37
NC_000006.10:g.132213970del NCBI36
NG_008206.1:g.48122del

Transcript Alleles

HGVS Amino-acid change
ENST00000647893.1:c.431-5del MANE Select ENSP00000498074.1:n.431-5del
ENST00000650147.1:c.109-5del
ENST00000650437.1:c.108+1031del
ENST00000360971.6:c.431-5del ENSP00000354238.2:n.431-5del
ENST00000486853.1:n.451-5del
ENST00000513998.5:c.431-5del ENSP00000422424.1:n.431-5del
NM_006208.2:c.431-5del NP_006199.2:n.431-5del
NM_006208.3:c.431-5del MANE Select NP_006199.2:n.431-5del
Search 100 bp 5'
Search 100 bp 3'