Canonical Allele Identifier: CA1094561841
Gene: ENPP1 HGNC NCBI

Linked Data

dbSNP Id: rs1782454697
gnomAD v3: 6-131890496-TAGCCA-T
gnomAD v4: 6-131890496-TAGCCA-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131890499_131890503del , CM000668.2:g.131890499_131890503del GRCh38
NC_000006.11:g.132211639_132211643del , CM000668.1:g.132211639_132211643del GRCh37
NC_000006.10:g.132253332_132253336del NCBI36
NG_008206.1:g.87484_87488del

Transcript Alleles

HGVS Amino-acid Change
ENST00000684674.1:n.1197_1201del
ENST00000647893.1:c.2766_2770del MANE Select ENSP00000498074.1:p.Ser922ArgfsTer23
ENST00000360971.6:c.2766_2770del ENSP00000354238.2:p.Ser922ArgfsTer23
ENST00000513998.5:c.*1603_*1607del ENSP00000422424.1:n.*1603_*1607del
NM_006208.2:c.2766_2770del NP_006199.2:p.Ser922ArgfsTer23
XM_011535896.1:c.1656_1660del XP_011534198.1:p.Ser552ArgfsTer23
NM_006208.3:c.2766_2770del MANE Select NP_006199.2:p.Ser922ArgfsTer23
Search 100 bp 5'
Search 100 bp 3'