Canonical Allele Identifier: CA4002585
Gene: ENPP1 HGNC NCBI

Linked Data

dbSNP Id: rs745831040
ExAC: 6:132211451 ACTTTT / A
gnomAD v2: 6-132211451-ACTTTT-A
gnomAD v3: 6-131890311-ACTTTT-A
gnomAD v4: 6-131890311-ACTTTT-A
MyVariant Identifiers: chr6:g.132211452_132211456del (hg19) chr6:g.131890312_131890316del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131890317_131890321del , CM000668.2:g.131890317_131890321del GRCh38
NC_000006.11:g.132211457_132211461del , CM000668.1:g.132211457_132211461del GRCh37
NC_000006.10:g.132253150_132253154del NCBI36
NG_008206.1:g.87302_87306del

Transcript Alleles

HGVS Amino-acid change
ENST00000684674.1:n.1039-24_1039-20del
ENST00000647893.1:c.2608-24_2608-20del MANE Select ENSP00000498074.1:n.2608-24_2608-20del
ENST00000360971.6:c.2608-24_2608-20del ENSP00000354238.2:n.2608-24_2608-20del
ENST00000513998.5:c.*1445-24_*1445-20del ENSP00000422424.1:n.*1445-24_*1445-20del
NM_006208.2:c.2608-24_2608-20del NP_006199.2:n.2608-24_2608-20del
XM_011535896.1:c.1498-24_1498-20del XP_011534198.1:n.1498-24_1498-20del
NM_006208.3:c.2608-24_2608-20del MANE Select NP_006199.2:n.2608-24_2608-20del
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