Canonical Allele Identifier: CA1664253723

Gene: ENPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131851144_131851146delinsCAT , CM000668.2:g.131851144_131851146delinsCAT	GRCh38
NC_000006.11:g.132172284_132172286delinsCAT , CM000668.1:g.132172284_132172286delinsCAT	GRCh37
NC_000006.10:g.132213977_132213979delinsCAT	NCBI36
NG_008206.1:g.48129_48131delinsCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647893.1:c.433_435delinsCAT MANE Select	ENSP00000498074.1:p.His145=
ENST00000650147.1:c.111_113delinsCAT
ENST00000650437.1:c.108+1038_108+1040delinsCAT
ENST00000360971.6:c.433_435delinsCAT	ENSP00000354238.2:p.His145=
ENST00000486853.1:n.453_455delinsCAT
ENST00000513998.5:c.433_435delinsCAT	ENSP00000422424.1:p.His145=
NM_006208.2:c.433_435delinsCAT	NP_006199.2:p.His145=
NM_006208.3:c.433_435delinsCAT MANE Select	NP_006199.2:p.His145=