Canonical Allele Identifier: CA10625909

Gene: ENPP1

Linked Data

• ClinVar Variation Id: 355333
• ClinVar RCV Id: RCV000289088 ; RCV000343673 ; RCV000502880 ; RCV000950717
• dbSNP Id: rs59956343
• gnomAD v2: 6-132168996-GGTGT-G
• gnomAD v3: 6-131847856-GGTGT-G
• gnomAD v4: 6-131847856-GGTGT-G
• MyVariant Identifiers: chr6:g.132169031_132169034del (hg19) ; chr6:g.132168999_132169002del (hg19) ; chr6:g.132168997_132169000del (hg19) ; chr6:g.131847891_131847894del (hg38) ; chr6:g.131847859_131847862del (hg38) ; chr6:g.131847857_131847860del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131847891_131847894del , CM000668.2:g.131847891_131847894del	GRCh38
NC_000006.11:g.132169031_132169034del , CM000668.1:g.132169031_132169034del	GRCh37
NC_000006.10:g.132210724_132210727del	NCBI36
NG_008206.1:g.44876_44879del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647893.1:c.313+43_313+46del MANE Select	ENSP00000498074.1:n.313+43_313+46del
ENST00000650507.1:c.320+43_320+46del	ENSP00000497375.1:n.320+43_320+46del
ENST00000360971.6:c.313+43_313+46del	ENSP00000354238.2:n.313+43_313+46del
ENST00000486853.1:n.333+43_333+46del
ENST00000513998.5:c.313+43_313+46del	ENSP00000422424.1:n.313+43_313+46del
NM_006208.2:c.313+43_313+46del	NP_006199.2:n.313+43_313+46del
NM_006208.3:c.313+43_313+46del MANE Select	NP_006199.2:n.313+43_313+46del