Canonical Allele Identifier: CA1664283084
Gene: ENPP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131890319_131890322delinsTTTA , CM000668.2:g.131890319_131890322delinsTTTA GRCh38
NC_000006.11:g.132211459_132211462delinsTTTA , CM000668.1:g.132211459_132211462delinsTTTA GRCh37
NC_000006.10:g.132253152_132253155delinsTTTA NCBI36
NG_008206.1:g.87304_87307delinsTTTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000684674.1:n.1039-22_1039-19delinsTTTA
ENST00000647893.1:c.2608-22_2608-19delinsTTTA MANE Select ENSP00000498074.1:n.2608-22_2608-19delinsTTTA
ENST00000360971.6:c.2608-22_2608-19delinsTTTA ENSP00000354238.2:n.2608-22_2608-19delinsTTTA
ENST00000513998.5:c.*1445-22_*1445-19delinsTTTA ENSP00000422424.1:n.*1445-22_*1445-19delinsTTTA
NM_006208.2:c.2608-22_2608-19delinsTTTA NP_006199.2:n.2608-22_2608-19delinsTTTA
XM_011535896.1:c.1498-22_1498-19delinsTTTA XP_011534198.1:n.1498-22_1498-19delinsTTTA
NM_006208.3:c.2608-22_2608-19delinsTTTA MANE Select NP_006199.2:n.2608-22_2608-19delinsTTTA