Canonical Allele Identifier: CA1664253842
Gene: ENPP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131851438_131851442delinsGGAGA , CM000668.2:g.131851438_131851442delinsGGAGA GRCh38
NC_000006.11:g.132172578_132172582delinsGGAGA , CM000668.1:g.132172578_132172582delinsGGAGA GRCh37
NC_000006.10:g.132214271_132214275delinsGGAGA NCBI36
NG_008206.1:g.48423_48427delinsGGAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000647893.1:c.556+171_556+175delinsGGAGA MANE Select ENSP00000498074.1:n.556+171_556+175delinsGGAGA
ENST00000650147.1:c.234+171_234+175delinsGGAGA
ENST00000650437.1:c.108+1332_108+1336delinsGGAGA
ENST00000360971.6:c.556+171_556+175delinsGGAGA ENSP00000354238.2:n.556+171_556+175delinsGGAGA
ENST00000513998.5:c.556+171_556+175delinsGGAGA ENSP00000422424.1:n.556+171_556+175delinsGGAGA
NM_006208.2:c.556+171_556+175delinsGGAGA NP_006199.2:n.556+171_556+175delinsGGAGA
NM_006208.3:c.556+171_556+175delinsGGAGA MANE Select NP_006199.2:n.556+171_556+175delinsGGAGA