Canonical Allele Identifier: CA2683720743

Gene: PEX1

Linked Data

• gnomAD v4: 7-92518239-G-GCCTGAACCTATCTAAGCTTGTACCTATTCAAGCTTACTTGGCCAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518239_92518240insCCTGAACCTATCTAAGCTTGTACCTATTCAAGCTTACTTGGCCAGA , CM000669.2:g.92518239_92518240insCCTGAACCTATCTAAGCTTGTACCTATTCAAGCTTACTTGGCCAGA	GRCh38
NC_000007.13:g.92147553_92147554insCCTGAACCTATCTAAGCTTGTACCTATTCAAGCTTACTTGGCCAGA , CM000669.1:g.92147553_92147554insCCTGAACCTATCTAAGCTTGTACCTATTCAAGCTTACTTGGCCAGA	GRCh37
NC_000007.12:g.91985489_91985490insCCTGAACCTATCTAAGCTTGTACCTATTCAAGCTTACTTGGCCAGA	NCBI36
NG_008341.1:g.15292_15293insTCTGGCCAAGTAAGCTTGAATAGGTACAAGCTTAGATAGGTTCAGG
NG_008341.2:g.15292_15293insTCTGGCCAAGTAAGCTTGAATAGGTACAAGCTTAGATAGGTTCAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.373_374insTCTGGCCAAGTAAGCTTGAATAGGTACAAGCTTAGATAGGTTCAGG MANE Select	ENSP00000248633.4:p.Ser125PhefsTer8
ENST00000248633.8:c.373_374insTCTGGCCAAGTAAGCTTGAATAGGTACAAGCTTAGATAGGTTCAGG	ENSP00000248633.4:p.Ser125PhefsTer8
ENST00000428214.5:c.373_374insTCTGGCCAAGTAAGCTTGAATAGGTACAAGCTTAGATAGGTTCAGG	ENSP00000394413.1:p.Ser125PhefsTer8
ENST00000438045.5:c.273+3862_273+3863insTCTGGCCAAGTAAGCTTGAATAGGTACAAGCTTAGATAGGTTCAGG	ENSP00000410438.1:n.273+3862_273+3863insTCTGGCCAAGTAAGCTTGAAT...
ENST00000484913.5:n.412_413insTCTGGCCAAGTAAGCTTGAATAGGTACAAGCTTAGATAGGTTCAGG
NM_000466.2:c.373_374insTCTGGCCAAGTAAGCTTGAATAGGTACAAGCTTAGATAGGTTCAGG	NP_000457.1:p.Ser125PhefsTer8
NM_001282677.1:c.373_374insTCTGGCCAAGTAAGCTTGAATAGGTACAAGCTTAGATAGGTTCAGG	NP_001269606.1:p.Ser125PhefsTer8
NM_001282678.1:c.-252_-251insTCTGGCCAAGTAAGCTTGAATAGGTACAAGCTTAGATAGGTTCAGG	NP_001269607.1:n.-252_-251insTCTGGCCAAGTAAGCTTGAATAGGTACAAGCT...
XR_242246.3:n.469_470insTCTGGCCAAGTAAGCTTGAATAGGTACAAGCTTAGATAGGTTCAGG
XR_242246.5:n.420_421insTCTGGCCAAGTAAGCTTGAATAGGTACAAGCTTAGATAGGTTCAGG
NM_000466.3:c.373_374insTCTGGCCAAGTAAGCTTGAATAGGTACAAGCTTAGATAGGTTCAGG MANE Select	NP_000457.1:p.Ser125PhefsTer8
NM_001282677.2:c.373_374insTCTGGCCAAGTAAGCTTGAATAGGTACAAGCTTAGATAGGTTCAGG	NP_001269606.1:p.Ser125PhefsTer8
NM_001282678.2:c.-252_-251insTCTGGCCAAGTAAGCTTGAATAGGTACAAGCTTAGATAGGTTCAGG	NP_001269607.1:n.-252_-251insTCTGGCCAAGTAAGCTTGAATAGGTACAAGCT...