Canonical Allele Identifier: CA2580077823

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2499624
• ClinVar RCV Id: RCV003223551

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504841_92504842insTTCACACTG , CM000669.2:g.92504841_92504842insTTCACACTG	GRCh38
NC_000007.13:g.92134155_92134156insTTCACACTG , CM000669.1:g.92134155_92134156insTTCACACTG	GRCh37
NC_000007.12:g.91972091_91972092insTTCACACTG	NCBI36
NG_008341.1:g.28690_28691insCAGTGTGAA
NG_008341.2:g.28690_28691insCAGTGTGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1961_1962insCAGTGTGAA MANE Select	ENSP00000248633.4:p.Met654delinsIleSerValLys
ENST00000248633.8:c.1961_1962insCAGTGTGAA	ENSP00000248633.4:p.Met654delinsIleSerValLys
ENST00000428214.5:c.1900+1406_1900+1407insCAGTGTGAA	ENSP00000394413.1:n.1900+1406_1900+1407insCAGTGTGAA
ENST00000438045.5:c.995_996insCAGTGTGAA	ENSP00000410438.1:p.Met332delinsIleSerValLys
ENST00000484913.5:n.2000_2001insCAGTGTGAA
ENST00000496420.5:n.1637_1638insCAGTGTGAA
NM_000466.2:c.1961_1962insCAGTGTGAA	NP_000457.1:p.Met654delinsIleSerValLys
NM_001282677.1:c.1900+1406_1900+1407insCAGTGTGAA	NP_001269606.1:n.1900+1406_1900+1407insCAGTGTGAA
NM_001282678.1:c.1337_1338insCAGTGTGAA	NP_001269607.1:p.Met446delinsIleSerValLys
XM_005250433.3:c.212_213insCAGTGTGAA	XP_005250490.1:p.Met71delinsIleSerValLys
XR_242246.3:n.2057_2058insCAGTGTGAA
XM_017012319.2:c.212_213insCAGTGTGAA	XP_016867808.1:p.Met71delinsIleSerValLys
XR_001744808.2:n.988_989insCAGTGTGAA
XR_242246.5:n.2008_2009insCAGTGTGAA
NM_000466.3:c.1961_1962insCAGTGTGAA MANE Select	NP_000457.1:p.Met654delinsIleSerValLys
NM_001282677.2:c.1900+1406_1900+1407insCAGTGTGAA	NP_001269606.1:n.1900+1406_1900+1407insCAGTGTGAA
NM_001282678.2:c.1337_1338insCAGTGTGAA	NP_001269607.1:p.Met446delinsIleSerValLys