Canonical Allele Identifier: CA2601656125

Gene: PEX1

Linked Data

• gnomAD v3: 7-92501975-G-GTATGTATGGCTCGATCCACAAGTACTGTAAAATCTCTAGCCACAAACCCT
• gnomAD v4: 7-92501975-G-GTATGTATGGCTCGATCCACAAGTACTGTAAAATCTCTAGCCACAAACCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501975_92501976insTATGTATGGCTCGATCCACAAGTACTGTAAAATCTCTAGCCACAAACCCT , CM000669.2:g.92501975_92501976insTATGTATGGCTCGATCCACAAGTACTGTAAAATCTCTAGCCACAAACCCT	GRCh38
NC_000007.13:g.92131289_92131290insTATGTATGGCTCGATCCACAAGTACTGTAAAATCTCTAGCCACAAACCCT , CM000669.1:g.92131289_92131290insTATGTATGGCTCGATCCACAAGTACTGTAAAATCTCTAGCCACAAACCCT	GRCh37
NC_000007.12:g.91969225_91969226insTATGTATGGCTCGATCCACAAGTACTGTAAAATCTCTAGCCACAAACCCT	NCBI36
NG_008341.1:g.31556_31557insAGGGTTTGTGGCTAGAGATTTTACAGTACTTGTGGATCGAGCCATACATA
NG_008341.2:g.31556_31557insAGGGTTTGTGGCTAGAGATTTTACAGTACTTGTGGATCGAGCCATACATA

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2330_2331insAGGGTTTGTGGCTAGAGATTTTACAGTACTTGTGGATCGAGCCATACATA MANE Select	ENSP00000248633.4:p.Ser794ThrfsTer?
ENST00000248633.8:c.2330_2331insAGGGTTTGTGGCTAGAGATTTTACAGTACTTGTGGATCGAGCCATACATA	ENSP00000248633.4:p.Ser794ThrfsTer?
ENST00000428214.5:c.2159_2160insAGGGTTTGTGGCTAGAGATTTTACAGTACTTGTGGATCGAGCCATACATA	ENSP00000394413.1:p.Ser737ThrfsTer?
ENST00000438045.5:c.1364_1365insAGGGTTTGTGGCTAGAGATTTTACAGTACTTGTGGATCGAGCCATACATA	ENSP00000410438.1:p.Ser472ThrfsTer?
ENST00000484913.5:n.2369_2370insAGGGTTTGTGGCTAGAGATTTTACAGTACTTGTGGATCGAGCCATACATA
ENST00000496092.1:n.128_129insAGGGTTTGTGGCTAGAGATTTTACAGTACTTGTGGATCGAGCCATACATA
ENST00000496420.5:n.2006_2007insAGGGTTTGTGGCTAGAGATTTTACAGTACTTGTGGATCGAGCCATACATA
NM_000466.2:c.2330_2331insAGGGTTTGTGGCTAGAGATTTTACAGTACTTGTGGATCGAGCCATACATA	NP_000457.1:p.Ser794ThrfsTer?
NM_001282677.1:c.2159_2160insAGGGTTTGTGGCTAGAGATTTTACAGTACTTGTGGATCGAGCCATACATA	NP_001269606.1:p.Ser737ThrfsTer?
NM_001282678.1:c.1706_1707insAGGGTTTGTGGCTAGAGATTTTACAGTACTTGTGGATCGAGCCATACATA	NP_001269607.1:p.Ser586ThrfsTer?
XM_005250433.3:c.581_582insAGGGTTTGTGGCTAGAGATTTTACAGTACTTGTGGATCGAGCCATACATA	XP_005250490.1:p.Ser211ThrfsTer?
XR_242246.3:n.2426_2427insAGGGTTTGTGGCTAGAGATTTTACAGTACTTGTGGATCGAGCCATACATA
XM_017012319.2:c.581_582insAGGGTTTGTGGCTAGAGATTTTACAGTACTTGTGGATCGAGCCATACATA	XP_016867808.1:p.Ser211ThrfsTer?
XR_001744808.2:n.1357_1358insAGGGTTTGTGGCTAGAGATTTTACAGTACTTGTGGATCGAGCCATACATA
XR_242246.5:n.2377_2378insAGGGTTTGTGGCTAGAGATTTTACAGTACTTGTGGATCGAGCCATACATA
NM_000466.3:c.2330_2331insAGGGTTTGTGGCTAGAGATTTTACAGTACTTGTGGATCGAGCCATACATA MANE Select	NP_000457.1:p.Ser794ThrfsTer?
NM_001282677.2:c.2159_2160insAGGGTTTGTGGCTAGAGATTTTACAGTACTTGTGGATCGAGCCATACATA	NP_001269606.1:p.Ser737ThrfsTer?
NM_001282678.2:c.1706_1707insAGGGTTTGTGGCTAGAGATTTTACAGTACTTGTGGATCGAGCCATACATA	NP_001269607.1:p.Ser586ThrfsTer?