Canonical Allele Identifier: CA1664253857
Gene: ENPP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131851470_131851477delinsTCACCCAG , CM000668.2:g.131851470_131851477delinsTCACCCAG GRCh38
NC_000006.11:g.132172610_132172617delinsTCACCCAG , CM000668.1:g.132172610_132172617delinsTCACCCAG GRCh37
NC_000006.10:g.132214303_132214310delinsTCACCCAG NCBI36
NG_008206.1:g.48455_48462delinsTCACCCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000647893.1:c.556+203_556+210delinsTCACCCAG MANE Select ENSP00000498074.1:n.556+203_556+210delinsTCACCCAG
ENST00000650147.1:c.234+203_234+210delinsTCACCCAG
ENST00000650437.1:c.108+1364_108+1371delinsTCACCCAG
ENST00000360971.6:c.556+203_556+210delinsTCACCCAG ENSP00000354238.2:n.556+203_556+210delinsTCACCCAG
ENST00000513998.5:c.556+203_556+210delinsTCACCCAG ENSP00000422424.1:n.556+203_556+210delinsTCACCCAG
NM_006208.2:c.556+203_556+210delinsTCACCCAG NP_006199.2:n.556+203_556+210delinsTCACCCAG
NM_006208.3:c.556+203_556+210delinsTCACCCAG MANE Select NP_006199.2:n.556+203_556+210delinsTCACCCAG