Canonical Allele Identifier: CA2680366478

Gene: ENPP1

Linked Data

• gnomAD v4: 6-131851535-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131851539del , CM000668.2:g.131851539del	GRCh38
NC_000006.11:g.132172679del , CM000668.1:g.132172679del	GRCh37
NC_000006.10:g.132214372del	NCBI36
NG_008206.1:g.48524del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647893.1:c.556+272del MANE Select	ENSP00000498074.1:n.556+272del
ENST00000650147.1:c.234+272del
ENST00000650437.1:c.108+1433del
ENST00000360971.6:c.556+272del	ENSP00000354238.2:n.556+272del
ENST00000513998.5:c.556+272del	ENSP00000422424.1:n.556+272del
NM_006208.2:c.556+272del	NP_006199.2:n.556+272del
NM_006208.3:c.556+272del MANE Select	NP_006199.2:n.556+272del