Canonical Allele Identifier: CA1727191960
Gene: PON1 HGNC NCBI

Linked Data

dbSNP Id: rs1807967847
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.95324419del , CM000669.2:g.95324419del GRCh38
NC_000007.13:g.94953731del , CM000669.1:g.94953731del GRCh37
NC_000007.12:g.94791667del NCBI36
NG_008779.1:g.5155del
NG_008779.2:g.5289del

Transcript Alleles

HGVS Amino-acid Change
ENST00000222381.8:c.58del MANE Select ENSP00000222381.3:p.His20ThrfsTer18
ENST00000222381.7:c.58del ENSP00000222381.3:p.His20ThrfsTer18
ENST00000433729.1:c.58del ENSP00000407359.1:p.His20ThrfsTer18
NM_000446.5:c.58del NP_000437.3:p.His20ThrfsTer18
NM_000446.6:c.58del NP_000437.3:p.His20ThrfsTer18
NM_000446.7:c.58del MANE Select NP_000437.3:p.His20ThrfsTer18
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