Canonical Allele Identifier: CA2683803443
Gene: PON1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.95324410_95324412del , CM000669.2:g.95324410_95324412del GRCh38
NC_000007.13:g.94953722_94953724del , CM000669.1:g.94953722_94953724del GRCh37
NC_000007.12:g.94791658_94791660del NCBI36
NG_008779.1:g.5165_5167del
NG_008779.2:g.5299_5301del

Transcript Alleles

HGVS Amino-acid Change
ENST00000222381.8:c.68_70del MANE Select ENSP00000222381.3:p.Ser23del
ENST00000222381.7:c.68_70del ENSP00000222381.3:p.Ser23del
ENST00000433729.1:c.68_70del ENSP00000407359.1:p.Ser23del
NM_000446.5:c.68_70del NP_000437.3:p.Ser23del
NM_000446.6:c.68_70del NP_000437.3:p.Ser23del
NM_000446.7:c.68_70del MANE Select NP_000437.3:p.Ser23del