Canonical Allele Identifier: CA1094555166

Gene: ENPP1

Linked Data

• dbSNP Id: rs1781880070
• gnomAD v3: 6-131851438-GGAGA-G
• gnomAD v4: 6-131851438-GGAGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131851444_131851447del , CM000668.2:g.131851444_131851447del	GRCh38
NC_000006.11:g.132172584_132172587del , CM000668.1:g.132172584_132172587del	GRCh37
NC_000006.10:g.132214277_132214280del	NCBI36
NG_008206.1:g.48429_48432del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647893.1:c.556+177_556+180del MANE Select	ENSP00000498074.1:n.556+177_556+180del
ENST00000650147.1:c.234+177_234+180del
ENST00000650437.1:c.108+1338_108+1341del
ENST00000360971.6:c.556+177_556+180del	ENSP00000354238.2:n.556+177_556+180del
ENST00000513998.5:c.556+177_556+180del	ENSP00000422424.1:n.556+177_556+180del
NM_006208.2:c.556+177_556+180del	NP_006199.2:n.556+177_556+180del
NM_006208.3:c.556+177_556+180del MANE Select	NP_006199.2:n.556+177_556+180del