Canonical Allele Identifier: CA2773093499
Gene: ENPP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131851445_131851448del , CM000668.2:g.131851445_131851448del GRCh38
NC_000006.11:g.132172585_132172588del , CM000668.1:g.132172585_132172588del GRCh37
NC_000006.10:g.132214278_132214281del NCBI36
NG_008206.1:g.48430_48433del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647893.1:c.556+178_556+181del MANE Select ENSP00000498074.1:n.556+178_556+181del
ENST00000650147.1:c.234+178_234+181del
ENST00000650437.1:c.108+1339_108+1342del
ENST00000360971.6:c.556+178_556+181del ENSP00000354238.2:n.556+178_556+181del
ENST00000513998.5:c.556+178_556+181del ENSP00000422424.1:n.556+178_556+181del
NM_006208.2:c.556+178_556+181del NP_006199.2:n.556+178_556+181del
NM_006208.3:c.556+178_556+181del MANE Select NP_006199.2:n.556+178_556+181del