Canonical Allele Identifier: CA819062003
Gene: ENPP1 HGNC NCBI

Linked Data

dbSNP Id: rs1470181476
gnomAD v3: 6-131851442-AG-A
gnomAD v4: 6-131851442-AG-A
MyVariant Identifiers: chr6:g.132172583del (hg19) chr6:g.131851443del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131851443del , CM000668.2:g.131851443del GRCh38
NC_000006.11:g.132172583del , CM000668.1:g.132172583del GRCh37
NC_000006.10:g.132214276del NCBI36
NG_008206.1:g.48428del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647893.1:c.556+176del MANE Select ENSP00000498074.1:n.556+176del
ENST00000650147.1:c.234+176del
ENST00000650437.1:c.108+1337del
ENST00000360971.6:c.556+176del ENSP00000354238.2:n.556+176del
ENST00000513998.5:c.556+176del ENSP00000422424.1:n.556+176del
NM_006208.2:c.556+176del NP_006199.2:n.556+176del
NM_006208.3:c.556+176del MANE Select NP_006199.2:n.556+176del
Search 100 bp 5'
Search 100 bp 3'