Canonical Allele Identifier: CA2680367210
Gene: ENPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131861506_131861507del , CM000668.2:g.131861506_131861507del GRCh38
NC_000006.11:g.132182646_132182647del , CM000668.1:g.132182646_132182647del GRCh37
NC_000006.10:g.132224339_132224340del NCBI36
NG_008206.1:g.58491_58492del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647893.1:c.916-89_916-88del MANE Select ENSP00000498074.1:n.916-89_916-88del
ENST00000650147.1:c.533-89_533-88del
ENST00000650437.1:c.407-89_407-88del
ENST00000360971.6:c.916-89_916-88del ENSP00000354238.2:n.916-89_916-88del
ENST00000513998.5:c.916-89_916-88del ENSP00000422424.1:n.916-89_916-88del
NM_006208.2:c.916-89_916-88del NP_006199.2:n.916-89_916-88del
NM_006208.3:c.916-89_916-88del MANE Select NP_006199.2:n.916-89_916-88del