Canonical Allele Identifier: CA1725949102

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518829_92518845delinsCAAAGTGCTGGGACTAT , CM000669.2:g.92518829_92518845delinsCAAAGTGCTGGGACTAT	GRCh38
NC_000007.13:g.92148143_92148159delinsCAAAGTGCTGGGACTAT , CM000669.1:g.92148143_92148159delinsCAAAGTGCTGGGACTAT	GRCh37
NC_000007.12:g.91986079_91986095delinsCAAAGTGCTGGGACTAT	NCBI36
NG_008341.1:g.14687_14703delinsATAGTCCCAGCACTTTG
NG_008341.2:g.14687_14703delinsATAGTCCCAGCACTTTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.357+150_357+166delinsATAGTCCCAGCACTTTG MANE Select	ENSP00000248633.4:n.357+150_357+166delins...
ENST00000248633.8:c.357+150_357+166delinsATAGTCCCAGCACTTTG	ENSP00000248633.4:n.357+150_357+166delins...
ENST00000428214.5:c.357+150_357+166delinsATAGTCCCAGCACTTTG	ENSP00000394413.1:n.357+150_357+166delins...
ENST00000438045.5:c.273+3257_273+3273delinsATAGTCCCAGCACTTTG	ENSP00000410438.1:n.273+3257_273+3273deli...
ENST00000484913.5:n.396+115_396+131delinsATAGTCCCAGCACTTTG
NM_000466.2:c.357+150_357+166delinsATAGTCCCAGCACTTTG	NP_000457.1:n.357+150_357+166delinsATAGTC...
NM_001282677.1:c.357+150_357+166delinsATAGTCCCAGCACTTTG	NP_001269606.1:n.357+150_357+166delinsATA...
NM_001282678.1:c.-268+115_-268+131delinsATAGTCCCAGCACTTTG	NP_001269607.1:n.-268+115_-268+131delinsA...
XR_242246.3:n.453+150_453+166delinsATAGTCCCAGCACTTTG
XR_242246.5:n.404+150_404+166delinsATAGTCCCAGCACTTTG
NM_000466.3:c.357+150_357+166delinsATAGTCCCAGCACTTTG MANE Select	NP_000457.1:n.357+150_357+166delinsATAGTC...
NM_001282677.2:c.357+150_357+166delinsATAGTCCCAGCACTTTG	NP_001269606.1:n.357+150_357+166delinsATA...
NM_001282678.2:c.-268+115_-268+131delinsATAGTCCCAGCACTTTG	NP_001269607.1:n.-268+115_-268+131delinsA...