Canonical Allele Identifier: CA2680366288

Gene: ENPP1

Linked Data

• gnomAD v4: 6-131851017-A-ACT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131851018_131851019dup , CM000668.2:g.131851018_131851019dup	GRCh38
NC_000006.11:g.132172158_132172159dup , CM000668.1:g.132172158_132172159dup	GRCh37
NC_000006.10:g.132213851_132213852dup	NCBI36
NG_008206.1:g.48003_48004dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647893.1:c.431-124_431-123dup MANE Select	ENSP00000498074.1:n.431-124_431-123dup
ENST00000650147.1:c.109-124_109-123dup
ENST00000650437.1:c.108+912_108+913dup
ENST00000360971.6:c.431-124_431-123dup	ENSP00000354238.2:n.431-124_431-123dup
ENST00000486853.1:n.451-124_451-123dup
ENST00000513998.5:c.431-124_431-123dup	ENSP00000422424.1:n.431-124_431-123dup
NM_006208.2:c.431-124_431-123dup	NP_006199.2:n.431-124_431-123dup
NM_006208.3:c.431-124_431-123dup MANE Select	NP_006199.2:n.431-124_431-123dup