Canonical Allele Identifier: CA1664283083
Gene: ENPP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131890317_131890318delinsCT , CM000668.2:g.131890317_131890318delinsCT GRCh38
NC_000006.11:g.132211457_132211458delinsCT , CM000668.1:g.132211457_132211458delinsCT GRCh37
NC_000006.10:g.132253150_132253151delinsCT NCBI36
NG_008206.1:g.87302_87303delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000684674.1:n.1039-24_1039-23delinsCT
ENST00000647893.1:c.2608-24_2608-23delinsCT MANE Select ENSP00000498074.1:n.2608-24_2608-23delinsCT
ENST00000360971.6:c.2608-24_2608-23delinsCT ENSP00000354238.2:n.2608-24_2608-23delinsCT
ENST00000513998.5:c.*1445-24_*1445-23delinsCT ENSP00000422424.1:n.*1445-24_*1445-23delinsCT
NM_006208.2:c.2608-24_2608-23delinsCT NP_006199.2:n.2608-24_2608-23delinsCT
XM_011535896.1:c.1498-24_1498-23delinsCT XP_011534198.1:n.1498-24_1498-23delinsCT
NM_006208.3:c.2608-24_2608-23delinsCT MANE Select NP_006199.2:n.2608-24_2608-23delinsCT