Canonical Allele Identifier: CA2683803169

Gene: PON1

Linked Data

• gnomAD v4: 7-95318537-C-CCTTGCCTGGAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.95318537_95318538insCTTGCCTGGAAA , CM000669.2:g.95318537_95318538insCTTGCCTGGAAA	GRCh38
NC_000007.13:g.94947849_94947850insCTTGCCTGGAAA , CM000669.1:g.94947849_94947850insCTTGCCTGGAAA	GRCh37
NC_000007.12:g.94785785_94785786insCTTGCCTGGAAA	NCBI36
NG_008779.1:g.11035_11036insTTTCCAGGCAAG
NG_008779.2:g.11169_11170insTTTCCAGGCAAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000222381.8:c.75-145_75-144insTTTCCAGGCAAG MANE Select	ENSP00000222381.3:n.75-145_75-144insTTTCCAGGCAAG
ENST00000222381.7:c.75-145_75-144insTTTCCAGGCAAG	ENSP00000222381.3:n.75-145_75-144insTTTCCAGGCAAG
ENST00000433729.1:c.75-145_75-144insTTTCCAGGCAAG	ENSP00000407359.1:n.75-145_75-144insTTTCCAGGCAAG
ENST00000470502.1:n.50_51insTTTCCAGGCAAG
NM_000446.5:c.75-145_75-144insTTTCCAGGCAAG	NP_000437.3:n.75-145_75-144insTTTCCAGGCAAG
NM_000446.6:c.75-145_75-144insTTTCCAGGCAAG	NP_000437.3:n.75-145_75-144insTTTCCAGGCAAG
NM_000446.7:c.75-145_75-144insTTTCCAGGCAAG MANE Select	NP_000437.3:n.75-145_75-144insTTTCCAGGCAAG