Canonical Allele Identifier: CA819061509

Gene: ENPP1

Linked Data

• dbSNP Id: rs1345108838
• gnomAD v3: 6-131850992-ATGGTAG-A
• gnomAD v4: 6-131850992-ATGGTAG-A
• MyVariant Identifiers: chr6:g.132172133_132172138del (hg19) ; chr6:g.131850993_131850998del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131850996_131851001del , CM000668.2:g.131850996_131851001del	GRCh38
NC_000006.11:g.132172136_132172141del , CM000668.1:g.132172136_132172141del	GRCh37
NC_000006.10:g.132213829_132213834del	NCBI36
NG_008206.1:g.47981_47986del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647893.1:c.431-146_431-141del MANE Select	ENSP00000498074.1:n.431-146_431-141del
ENST00000650147.1:c.109-146_109-141del
ENST00000650437.1:c.108+890_108+895del
ENST00000360971.6:c.431-146_431-141del	ENSP00000354238.2:n.431-146_431-141del
ENST00000486853.1:n.451-146_451-141del
ENST00000513998.5:c.431-146_431-141del	ENSP00000422424.1:n.431-146_431-141del
NM_006208.2:c.431-146_431-141del	NP_006199.2:n.431-146_431-141del
NM_006208.3:c.431-146_431-141del MANE Select	NP_006199.2:n.431-146_431-141del