Canonical Allele Identifier: CA913128005
Gene: PON1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.95324434_95324435del , CM000669.2:g.95324434_95324435del GRCh38
NC_000007.13:g.94953746_94953747del , CM000669.1:g.94953746_94953747del GRCh37
NC_000007.12:g.94791682_94791683del NCBI36
NG_008779.1:g.5138_5139del
NG_008779.2:g.5272_5273del

Transcript Alleles

HGVS Amino-acid Change
ENST00000222381.8:c.41_42del MANE Select ENSP00000222381.3:p.Leu14ArgfsTer15
ENST00000222381.7:c.41_42del ENSP00000222381.3:p.Leu14ArgfsTer15
ENST00000433729.1:c.41_42del ENSP00000407359.1:p.Leu14ArgfsTer15
NM_000446.5:c.41_42del NP_000437.3:p.Leu14ArgfsTer15
NM_000446.6:c.41_42del NP_000437.3:p.Leu14ArgfsTer15
NM_000446.7:c.41_42del MANE Select NP_000437.3:p.Leu14ArgfsTer15