Canonical Allele Identifier: CA1725949346

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92519050_92519051delinsAC , CM000669.2:g.92519050_92519051delinsAC	GRCh38
NC_000007.13:g.92148364_92148365delinsAC , CM000669.1:g.92148364_92148365delinsAC	GRCh37
NC_000007.12:g.91986300_91986301delinsAC	NCBI36
NG_008341.1:g.14481_14482delinsGT
NG_008341.2:g.14481_14482delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.301_302delinsGT MANE Select	ENSP00000248633.4:p.Val101=
ENST00000248633.8:c.301_302delinsGT	ENSP00000248633.4:p.Val101=
ENST00000428214.5:c.301_302delinsGT	ENSP00000394413.1:p.Val101=
ENST00000438045.5:c.273+3051_273+3052delinsGT	ENSP00000410438.1:n.273+3051_273+3052delinsGT
ENST00000484913.5:n.305_306delinsGT
NM_000466.2:c.301_302delinsGT	NP_000457.1:p.Val101=
NM_001282677.1:c.301_302delinsGT	NP_001269606.1:p.Val101=
NM_001282678.1:c.-359_-358delinsGT	NP_001269607.1:n.-359_-358delinsGT
XR_242246.3:n.397_398delinsGT
XR_242246.5:n.348_349delinsGT
NM_000466.3:c.301_302delinsGT MANE Select	NP_000457.1:p.Val101=
NM_001282677.2:c.301_302delinsGT	NP_001269606.1:p.Val101=
NM_001282678.2:c.-359_-358delinsGT	NP_001269607.1:n.-359_-358delinsGT