Canonical Allele Identifier: CA201644

Gene: ENPP1

Linked Data

• ClinVar Variation Id: 195259
• ClinVar RCV Id: RCV000175820 ; RCV001572677
• dbSNP Id: rs377330284
• ExAC: 6:132168995 AG / A
• gnomAD v2: 6-132168995-AG-A
• gnomAD v3: 6-131847855-AG-A
• gnomAD v4: 6-131847855-AG-A
• MyVariant Identifiers: chr6:g.132168996del (hg19) ; chr6:g.132168997_132169000delinsTGT (hg19) ; chr6:g.132168997_132169012delinsTGTGTGTGTGTGTGT (hg19) ; chr6:g.131847856del (hg38) ; chr6:g.131847857_131847872delinsTGTGTGTGTGTGTGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131847857del , CM000668.2:g.131847857del	GRCh38
NC_000006.11:g.132168997del , CM000668.1:g.132168997del	GRCh37
NC_000006.10:g.132210690del	NCBI36
NG_008206.1:g.44842del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647893.1:c.313+9del MANE Select	ENSP00000498074.1:n.313+9del
ENST00000650507.1:c.320+9del	ENSP00000497375.1:n.320+9del
ENST00000360971.6:c.313+9del	ENSP00000354238.2:n.313+9del
ENST00000486853.1:n.333+9del
ENST00000513998.5:c.313+9del	ENSP00000422424.1:n.313+9del
NM_006208.2:c.313+9del	NP_006199.2:n.313+9del
NM_006208.3:c.313+9del MANE Select	NP_006199.2:n.313+9del