Canonical Allele Identifier: CA123289
Gene: ENPP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 13593
ClinVar RCV Id: RCV000014562

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131885765_131891379del , CM000668.2:g.131885765_131891379del GRCh38
NC_000006.11:g.132206905_132212519del , CM000668.1:g.132206905_132212519del GRCh37
NC_000006.10:g.132248598_132254212del NCBI36
NG_008206.1:g.82750_88364del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647893.1:c.2444+702_*868del
ENST00000360971.6:c.2444+702_*868del
NM_006208.2:c.2444+702_*868del
XM_011535896.1:c.1334+702_*868del
NM_006208.3:c.2444+702_*868del