Canonical Allele Identifier: CA2695208000

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92519008_92519009insAG , CM000669.2:g.92519008_92519009insAG	GRCh38
NC_000007.13:g.92148322_92148323insAG , CM000669.1:g.92148322_92148323insAG	GRCh37
NC_000007.12:g.91986258_91986259insAG	NCBI36
NG_008341.1:g.14523_14524insCT
NG_008341.2:g.14523_14524insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.343_344insCT MANE Select	ENSP00000248633.4:p.Asp115AlafsTer18
ENST00000248633.8:c.343_344insCT	ENSP00000248633.4:p.Asp115AlafsTer18
ENST00000428214.5:c.343_344insCT	ENSP00000394413.1:p.Asp115AlafsTer18
ENST00000438045.5:c.273+3093_273+3094insCT	ENSP00000410438.1:n.273+3093_273+3094insCT
ENST00000484913.5:n.347_348insCT
NM_000466.2:c.343_344insCT	NP_000457.1:p.Asp115AlafsTer18
NM_001282677.1:c.343_344insCT	NP_001269606.1:p.Asp115AlafsTer18
NM_001282678.1:c.-317_-316insCT	NP_001269607.1:n.-317_-316insCT
XR_242246.3:n.439_440insCT
XR_242246.5:n.390_391insCT
NM_000466.3:c.343_344insCT MANE Select	NP_000457.1:p.Asp115AlafsTer18
NM_001282677.2:c.343_344insCT	NP_001269606.1:p.Asp115AlafsTer18
NM_001282678.2:c.-317_-316insCT	NP_001269607.1:n.-317_-316insCT