Canonical Allele Identifier: CA570097336
Gene: ENPP1 HGNC NCBI

Linked Data

dbSNP Id: rs1232306053
gnomAD v2: 6-132172610-TCACCCAG-T
gnomAD v3: 6-131851470-TCACCCAG-T
gnomAD v4: 6-131851470-TCACCCAG-T
MyVariant Identifiers: chr6:g.132172611_132172617del (hg19) chr6:g.131851471_131851477del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131851472_131851478del , CM000668.2:g.131851472_131851478del GRCh38
NC_000006.11:g.132172612_132172618del , CM000668.1:g.132172612_132172618del GRCh37
NC_000006.10:g.132214305_132214311del NCBI36
NG_008206.1:g.48457_48463del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647893.1:c.556+205_556+211del MANE Select ENSP00000498074.1:n.556+205_556+211del
ENST00000650147.1:c.234+205_234+211del
ENST00000650437.1:c.108+1366_108+1372del
ENST00000360971.6:c.556+205_556+211del ENSP00000354238.2:n.556+205_556+211del
ENST00000513998.5:c.556+205_556+211del ENSP00000422424.1:n.556+205_556+211del
NM_006208.2:c.556+205_556+211del NP_006199.2:n.556+205_556+211del
NM_006208.3:c.556+205_556+211del MANE Select NP_006199.2:n.556+205_556+211del
Search 100 bp 5'
Search 100 bp 3'