Canonical Allele Identifier: CA1664253833
Gene: ENPP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131851419_131851420delinsCT , CM000668.2:g.131851419_131851420delinsCT GRCh38
NC_000006.11:g.132172559_132172560delinsCT , CM000668.1:g.132172559_132172560delinsCT GRCh37
NC_000006.10:g.132214252_132214253delinsCT NCBI36
NG_008206.1:g.48404_48405delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000647893.1:c.556+152_556+153delinsCT MANE Select ENSP00000498074.1:n.556+152_556+153delinsCT
ENST00000650147.1:c.234+152_234+153delinsCT
ENST00000650437.1:c.108+1313_108+1314delinsCT
ENST00000360971.6:c.556+152_556+153delinsCT ENSP00000354238.2:n.556+152_556+153delinsCT
ENST00000486853.1:n.728_729delinsCT
ENST00000513998.5:c.556+152_556+153delinsCT ENSP00000422424.1:n.556+152_556+153delinsCT
NM_006208.2:c.556+152_556+153delinsCT NP_006199.2:n.556+152_556+153delinsCT
NM_006208.3:c.556+152_556+153delinsCT MANE Select NP_006199.2:n.556+152_556+153delinsCT