Canonical Allele Identifier: CA1094553701
Gene: ENPP1 HGNC NCBI

Linked Data

dbSNP Id: rs1781816044
gnomAD v3: 6-131846750-AG-A
gnomAD v4: 6-131846750-AG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131846752del , CM000668.2:g.131846752del GRCh38
NC_000006.11:g.132167892del , CM000668.1:g.132167892del GRCh37
NC_000006.10:g.132209585del NCBI36
NG_008206.1:g.43737del

Transcript Alleles

HGVS Amino-acid change
ENST00000684147.1:n.519-1024del
ENST00000647893.1:c.241-1024del MANE Select ENSP00000498074.1:n.241-1024del
ENST00000650507.1:c.248-1024del ENSP00000497375.1:n.248-1024del
ENST00000360971.6:c.241-1024del ENSP00000354238.2:n.241-1024del
ENST00000486853.1:n.261-1024del
ENST00000513998.5:c.241-1024del ENSP00000422424.1:n.241-1024del
NM_006208.2:c.241-1024del NP_006199.2:n.241-1024del
NM_006208.3:c.241-1024del MANE Select NP_006199.2:n.241-1024del
Search 100 bp 5'
Search 100 bp 3'