Canonical Allele Identifier: CA1664253825
Gene: ENPP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131851384_131851385delinsGA , CM000668.2:g.131851384_131851385delinsGA GRCh38
NC_000006.11:g.132172524_132172525delinsGA , CM000668.1:g.132172524_132172525delinsGA GRCh37
NC_000006.10:g.132214217_132214218delinsGA NCBI36
NG_008206.1:g.48369_48370delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000647893.1:c.556+117_556+118delinsGA MANE Select ENSP00000498074.1:n.556+117_556+118delinsGA
ENST00000650147.1:c.234+117_234+118delinsGA
ENST00000650437.1:c.108+1278_108+1279delinsGA
ENST00000360971.6:c.556+117_556+118delinsGA ENSP00000354238.2:n.556+117_556+118delinsGA
ENST00000486853.1:n.693_694delinsGA
ENST00000513998.5:c.556+117_556+118delinsGA ENSP00000422424.1:n.556+117_556+118delinsGA
NM_006208.2:c.556+117_556+118delinsGA NP_006199.2:n.556+117_556+118delinsGA
NM_006208.3:c.556+117_556+118delinsGA MANE Select NP_006199.2:n.556+117_556+118delinsGA