Canonical Allele Identifier: CA2535938020

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92522257_92522258insTATAGCAATA , CM000669.2:g.92522257_92522258insTATAGCAATA	GRCh38
NC_000007.13:g.92151571_92151572insTATAGCAATA , CM000669.1:g.92151571_92151572insTATAGCAATA	GRCh37
NC_000007.12:g.91989507_91989508insTATAGCAATA	NCBI36
NG_008341.1:g.11275_11276insATTGCTATAT
NG_008341.2:g.11275_11276insATTGCTATAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.130-12_130-11insATTGCTATAT MANE Select	ENSP00000248633.4:n.130-12_130-11insATTGC...
ENST00000248633.8:c.130-12_130-11insATTGCTATAT	ENSP00000248633.4:n.130-12_130-11insATTGC...
ENST00000428214.5:c.130-12_130-11insATTGCTATAT	ENSP00000394413.1:n.130-12_130-11insATTGC...
ENST00000438045.5:c.130-12_130-11insATTGCTATAT	ENSP00000410438.1:n.130-12_130-11insATTGC...
ENST00000484913.5:n.134-12_134-11insATTGCTATAT
NM_000466.2:c.130-12_130-11insATTGCTATAT	NP_000457.1:n.130-12_130-11insATTGCTATAT
NM_001282677.1:c.130-12_130-11insATTGCTATAT	NP_001269606.1:n.130-12_130-11insATTGCTAT...
NM_001282678.1:c.-530-12_-530-11insATTGCTATAT	NP_001269607.1:n.-530-12_-530-11insATTGCT...
XR_242246.3:n.226-12_226-11insATTGCTATAT
XR_242246.5:n.177-12_177-11insATTGCTATAT
NM_000466.3:c.130-12_130-11insATTGCTATAT MANE Select	NP_000457.1:n.130-12_130-11insATTGCTATAT
NM_001282677.2:c.130-12_130-11insATTGCTATAT	NP_001269606.1:n.130-12_130-11insATTGCTAT...
NM_001282678.2:c.-530-12_-530-11insATTGCTATAT	NP_001269607.1:n.-530-12_-530-11insATTGCT...