Canonical Allele Identifier: CA1664283167
Gene: ENPP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131890510_131890512delinsGAT , CM000668.2:g.131890510_131890512delinsGAT GRCh38
NC_000006.11:g.132211650_132211652delinsGAT , CM000668.1:g.132211650_132211652delinsGAT GRCh37
NC_000006.10:g.132253343_132253345delinsGAT NCBI36
NG_008206.1:g.87495_87497delinsGAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000684674.1:n.1208_1210delinsGAT
ENST00000647893.1:c.2777_*1delinsGAT MANE Select ENSP00000498074.1:n.[c.2777_*1delinsGAT;Ter926=]
ENST00000360971.6:c.2777_*1delinsGAT ENSP00000354238.2:n.[c.2777_*1delinsGAT;Ter926=]
ENST00000513998.5:c.*1614_*1616delinsGAT ENSP00000422424.1:n.*1614_*1616delinsGAT
NM_006208.2:c.2777_*1delinsGAT NP_006199.2:n.[c.2777_*1delinsGAT;Ter926=]
XM_011535896.1:c.1667_*1delinsGAT XP_011534198.1:n.[c.1667_*1delinsGAT;Ter556=]
NM_006208.3:c.2777_*1delinsGAT MANE Select NP_006199.2:n.[c.2777_*1delinsGAT;Ter926=]