Canonical Allele Identifier: CA2773093494
Gene: ENPP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131851408_131851409insTTTTTTTTTTTTTTT , CM000668.2:g.131851408_131851409insTTTTTTTTTTTTTTT GRCh38
NC_000006.11:g.132172548_132172549insTTTTTTTTTTTTTTT , CM000668.1:g.132172548_132172549insTTTTTTTTTTTTTTT GRCh37
NC_000006.10:g.132214241_132214242insTTTTTTTTTTTTTTT NCBI36
NG_008206.1:g.48393_48394insTTTTTTTTTTTTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000647893.1:c.556+141_556+142insTTTTTTTTTTTTTTT MANE Select ENSP00000498074.1:n.556+141_556+142insTTTTTTTTTTTTTTT
ENST00000650147.1:c.234+141_234+142insTTTTTTTTTTTTTTT
ENST00000650437.1:c.108+1302_108+1303insTTTTTTTTTTTTTTT
ENST00000360971.6:c.556+141_556+142insTTTTTTTTTTTTTTT ENSP00000354238.2:n.556+141_556+142insTTTTTTTTTTTTTTT
ENST00000486853.1:n.717_718insTTTTTTTTTTTTTTT
ENST00000513998.5:c.556+141_556+142insTTTTTTTTTTTTTTT ENSP00000422424.1:n.556+141_556+142insTTTTTTTTTTTTTTT
NM_006208.2:c.556+141_556+142insTTTTTTTTTTTTTTT NP_006199.2:n.556+141_556+142insTTTTTTTTTTTTTTT
NM_006208.3:c.556+141_556+142insTTTTTTTTTTTTTTT MANE Select NP_006199.2:n.556+141_556+142insTTTTTTTTTTTTTTT