Canonical Allele Identifier: CA4002629
Gene: ENPP1 HGNC NCBI

Linked Data

dbSNP Id: rs768373741
ExAC: 6:132211654 TG / T
gnomAD v2: 6-132211654-TG-T
gnomAD v4: 6-131890514-TG-T
MyVariant Identifiers: chr6:g.132211655del (hg19) chr6:g.131890515del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131890515del , CM000668.2:g.131890515del GRCh38
NC_000006.11:g.132211655del , CM000668.1:g.132211655del GRCh37
NC_000006.10:g.132253348del NCBI36
NG_008206.1:g.87500del

Transcript Alleles

HGVS Amino-acid Change
ENST00000684674.1:n.1213del
ENST00000647893.1:c.*4del MANE Select ENSP00000498074.1:n.*4del
ENST00000360971.6:c.*4del ENSP00000354238.2:n.*4del
ENST00000513998.5:c.*1619del ENSP00000422424.1:n.*1619del
NM_006208.2:c.*4del NP_006199.2:n.*4del
XM_011535896.1:c.*4del XP_011534198.1:n.*4del
NM_006208.3:c.*4del MANE Select NP_006199.2:n.*4del
Search 100 bp 5'
Search 100 bp 3'