Canonical Allele Identifier: CA2680366477

Gene: ENPP1

Linked Data

• gnomAD v4: 6-131851535-T-TC

Genomic Alleles

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

Transcript Alleles

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