Canonical Allele Identifier: CA147912114

Gene: ENPP1

Linked Data

• dbSNP Id: rs540499362
• MyVariant Identifiers: chr6:g.132153989_132153998del (hg19) ; chr6:g.131832849_131832858del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131832849_131832858del , CM000668.2:g.131832849_131832858del	GRCh38
NC_000006.11:g.132153989_132153998del , CM000668.1:g.132153989_132153998del	GRCh37
NC_000006.10:g.132195682_132195691del	NCBI36
NG_008206.1:g.29834_29843del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647893.1:c.241-14927_241-14918del MANE Select	ENSP00000498074.1:n.241-14927_241-14918del
ENST00000650507.1:c.247+6734_247+6743del	ENSP00000497375.1:n.247+6734_247+6743del
ENST00000360971.6:c.241-14927_241-14918del	ENSP00000354238.2:n.241-14927_241-14918del
ENST00000486853.1:n.261-14927_261-14918del
ENST00000513998.5:c.241-14927_241-14918del	ENSP00000422424.1:n.241-14927_241-14918del
NM_006208.2:c.241-14927_241-14918del	NP_006199.2:n.241-14927_241-14918del
NM_006208.3:c.241-14927_241-14918del MANE Select	NP_006199.2:n.241-14927_241-14918del