Canonical Allele Identifier: CA2680366456

Gene: ENPP1

Linked Data

• gnomAD v4: 6-131851495-T-TGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131851496_131851497insAAG , CM000668.2:g.131851496_131851497insAAG	GRCh38
NC_000006.11:g.132172636_132172637insAAG , CM000668.1:g.132172636_132172637insAAG	GRCh37
NC_000006.10:g.132214329_132214330insAAG	NCBI36
NG_008206.1:g.48481_48482insAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647893.1:c.556+229_556+230insAAG MANE Select	ENSP00000498074.1:n.556+229_556+230insAAG
ENST00000650147.1:c.234+229_234+230insAAG
ENST00000650437.1:c.108+1390_108+1391insAAG
ENST00000360971.6:c.556+229_556+230insAAG	ENSP00000354238.2:n.556+229_556+230insAAG
ENST00000513998.5:c.556+229_556+230insAAG	ENSP00000422424.1:n.556+229_556+230insAAG
NM_006208.2:c.556+229_556+230insAAG	NP_006199.2:n.556+229_556+230insAAG
NM_006208.3:c.556+229_556+230insAAG MANE Select	NP_006199.2:n.556+229_556+230insAAG