Canonical Allele Identifier: CA1725941828

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506876_92506903delinsAACCCTATATAATAGATGGTCAAAACCC , CM000669.2:g.92506876_92506903delinsAACCCTATATAATAGATGGTCAAAACCC	GRCh38
NC_000007.13:g.92136190_92136217delinsAACCCTATATAATAGATGGTCAAAACCC , CM000669.1:g.92136190_92136217delinsAACCCTATATAATAGATGGTCAAAACCC	GRCh37
NC_000007.12:g.91974126_91974153delinsAACCCTATATAATAGATGGTCAAAACCC	NCBI36
NG_008341.1:g.26629_26656delinsGGGTTTTGACCATCTATTATATAGGGTT
NG_008341.2:g.26629_26656delinsGGGTTTTGACCATCTATTATATAGGGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1803+91_1803+118delinsGGGTTTTGACCATCTATTATATAGGGTT MANE Select	ENSP00000248633.4:n.1803+91_1803+118delinsGGGTTTTGACCATCTATTA...
ENST00000248633.8:c.1803+91_1803+118delinsGGGTTTTGACCATCTATTATATAGGGTT	ENSP00000248633.4:n.1803+91_1803+118delinsGGGTTTTGACCATCTATTA...
ENST00000422866.1:c.621+91_621+118delinsGGGTTTTGACCATCTATTATATAGGGTT
ENST00000428214.5:c.1803+91_1803+118delinsGGGTTTTGACCATCTATTATATAGGGTT	ENSP00000394413.1:n.1803+91_1803+118delinsGGGTTTTGACCATCTATTA...
ENST00000438045.5:c.837+91_837+118delinsGGGTTTTGACCATCTATTATATAGGGTT	ENSP00000410438.1:n.837+91_837+118delinsGGGTTTTGACCATCTATTATA...
ENST00000484913.5:n.1842+91_1842+118delinsGGGTTTTGACCATCTATTATATAGGGTT
ENST00000496420.5:n.921_948delinsGGGTTTTGACCATCTATTATATAGGGTT
NM_000466.2:c.1803+91_1803+118delinsGGGTTTTGACCATCTATTATATAGGGTT	NP_000457.1:n.1803+91_1803+118delinsGGGTTTTGACCATCTATTATATAGG...
NM_001282677.1:c.1803+91_1803+118delinsGGGTTTTGACCATCTATTATATAGGGTT	NP_001269606.1:n.1803+91_1803+118delinsGGGTTTTGACCATCTATTATAT...
NM_001282678.1:c.1179+91_1179+118delinsGGGTTTTGACCATCTATTATATAGGGTT	NP_001269607.1:n.1179+91_1179+118delinsGGGTTTTGACCATCTATTATAT...
XM_005250433.3:c.54+91_54+118delinsGGGTTTTGACCATCTATTATATAGGGTT	XP_005250490.1:n.54+91_54+118delinsGGGTTTTGACCATCTATTATATAGGG...
XR_242246.3:n.1899+91_1899+118delinsGGGTTTTGACCATCTATTATATAGGGTT
XM_017012319.2:c.54+91_54+118delinsGGGTTTTGACCATCTATTATATAGGGTT	XP_016867808.1:n.54+91_54+118delinsGGGTTTTGACCATCTATTATATAGGG...
XR_001744808.2:n.830+91_830+118delinsGGGTTTTGACCATCTATTATATAGGGTT
XR_242246.5:n.1850+91_1850+118delinsGGGTTTTGACCATCTATTATATAGGGTT
NM_000466.3:c.1803+91_1803+118delinsGGGTTTTGACCATCTATTATATAGGGTT MANE Select	NP_000457.1:n.1803+91_1803+118delinsGGGTTTTGACCATCTATTATATAGG...
NM_001282677.2:c.1803+91_1803+118delinsGGGTTTTGACCATCTATTATATAGGGTT	NP_001269606.1:n.1803+91_1803+118delinsGGGTTTTGACCATCTATTATAT...
NM_001282678.2:c.1179+91_1179+118delinsGGGTTTTGACCATCTATTATATAGGGTT	NP_001269607.1:n.1179+91_1179+118delinsGGGTTTTGACCATCTATTATAT...