Canonical Allele Identifier: CA2777012445
Gene: PON1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.95324444_95324445insACAAAACACAC , CM000669.2:g.95324444_95324445insACAAAACACAC GRCh38
NC_000007.13:g.94953756_94953757insACAAAACACAC , CM000669.1:g.94953756_94953757insACAAAACACAC GRCh37
NC_000007.12:g.94791692_94791693insACAAAACACAC NCBI36
NG_008779.1:g.5129_5130insTGTGTTTTGTG
NG_008779.2:g.5263_5264insTGTGTTTTGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000222381.8:c.32_33insTGTGTTTTGTG MANE Select ENSP00000222381.3:p.Met12ValfsTer30
ENST00000222381.7:c.32_33insTGTGTTTTGTG ENSP00000222381.3:p.Met12ValfsTer30
ENST00000433729.1:c.32_33insTGTGTTTTGTG ENSP00000407359.1:p.Met12ValfsTer30
NM_000446.5:c.32_33insTGTGTTTTGTG NP_000437.3:p.Met12ValfsTer30
NM_000446.6:c.32_33insTGTGTTTTGTG NP_000437.3:p.Met12ValfsTer30
NM_000446.7:c.32_33insTGTGTTTTGTG MANE Select NP_000437.3:p.Met12ValfsTer30