Canonical Allele Identifier: CA4002586
Gene: ENPP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1633912
ClinVar RCV Id: RCV002130522
dbSNP Id: rs768023537
ExAC: 6:132211459 TTTA / T
gnomAD v2: 6-132211459-TTTA-T
gnomAD v3: 6-131890319-TTTA-T
gnomAD v4: 6-131890319-TTTA-T
MyVariant Identifiers: chr6:g.132211460_132211462del (hg19) chr6:g.131890320_131890322del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131890321_131890323del , CM000668.2:g.131890321_131890323del GRCh38
NC_000006.11:g.132211461_132211463del , CM000668.1:g.132211461_132211463del GRCh37
NC_000006.10:g.132253154_132253156del NCBI36
NG_008206.1:g.87306_87308del

Transcript Alleles

HGVS Amino-acid change
ENST00000684674.1:n.1039-20_1039-18del
ENST00000647893.1:c.2608-20_2608-18del MANE Select ENSP00000498074.1:n.2608-20_2608-18del
ENST00000360971.6:c.2608-20_2608-18del ENSP00000354238.2:n.2608-20_2608-18del
ENST00000513998.5:c.*1445-20_*1445-18del ENSP00000422424.1:n.*1445-20_*1445-18del
NM_006208.2:c.2608-20_2608-18del NP_006199.2:n.2608-20_2608-18del
XM_011535896.1:c.1498-20_1498-18del XP_011534198.1:n.1498-20_1498-18del
NM_006208.3:c.2608-20_2608-18del MANE Select NP_006199.2:n.2608-20_2608-18del
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