Canonical Allele Identifier: CA2680371753
Gene: ENPP1 HGNC NCBI

Linked Data

gnomAD v4: 6-131890515-GT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131890521del , CM000668.2:g.131890521del GRCh38
NC_000006.11:g.132211661del , CM000668.1:g.132211661del GRCh37
NC_000006.10:g.132253354del NCBI36
NG_008206.1:g.87506del

Transcript Alleles

HGVS Amino-acid Change
ENST00000684674.1:n.1219del
ENST00000647893.1:c.*10del MANE Select ENSP00000498074.1:n.*10del
ENST00000360971.6:c.*10del ENSP00000354238.2:n.*10del
ENST00000513998.5:c.*1625del ENSP00000422424.1:n.*1625del
NM_006208.2:c.*10del NP_006199.2:n.*10del
XM_011535896.1:c.*10del XP_011534198.1:n.*10del
NM_006208.3:c.*10del MANE Select NP_006199.2:n.*10del
Search 100 bp 5'
Search 100 bp 3'