Canonical Allele Identifier: CA2776945652

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496857_92496858insAGG , CM000669.2:g.92496857_92496858insAGG	GRCh38
NC_000007.13:g.92126171_92126172insAGG , CM000669.1:g.92126171_92126172insAGG	GRCh37
NC_000007.12:g.91964107_91964108insAGG	NCBI36
NG_008341.1:g.36674_36675insCCT
NG_008341.2:g.36674_36675insCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2719-81_2719-80insCCT MANE Select	ENSP00000248633.4:n.2719-81_2719-80insCCT
ENST00000248633.8:c.2719-81_2719-80insCCT	ENSP00000248633.4:n.2719-81_2719-80insCCT
ENST00000428214.5:c.2548-81_2548-80insCCT	ENSP00000394413.1:n.2548-81_2548-80insCCT
ENST00000438045.5:c.1753-81_1753-80insCCT	ENSP00000410438.1:n.1753-81_1753-80insCCT
ENST00000484913.5:n.2758-81_2758-80insCCT
ENST00000496420.5:n.2611-81_2611-80insCCT
NM_000466.2:c.2719-81_2719-80insCCT	NP_000457.1:n.2719-81_2719-80insCCT
NM_001282677.1:c.2548-81_2548-80insCCT	NP_001269606.1:n.2548-81_2548-80insCCT
NM_001282678.1:c.2095-81_2095-80insCCT	NP_001269607.1:n.2095-81_2095-80insCCT
XM_005250433.3:c.970-81_970-80insCCT	XP_005250490.1:n.970-81_970-80insCCT
XR_242246.3:n.2815-81_2815-80insCCT
XM_017012319.2:c.970-81_970-80insCCT	XP_016867808.1:n.970-81_970-80insCCT
XR_001744808.2:n.1746-81_1746-80insCCT
XR_242246.5:n.2766-81_2766-80insCCT
NM_000466.3:c.2719-81_2719-80insCCT MANE Select	NP_000457.1:n.2719-81_2719-80insCCT
NM_001282677.2:c.2548-81_2548-80insCCT	NP_001269606.1:n.2548-81_2548-80insCCT
NM_001282678.2:c.2095-81_2095-80insCCT	NP_001269607.1:n.2095-81_2095-80insCCT