Canonical Allele Identifier: CA1725946805

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92510918_92510922delinsTTAAA , CM000669.2:g.92510918_92510922delinsTTAAA	GRCh38
NC_000007.13:g.92140232_92140236delinsTTAAA , CM000669.1:g.92140232_92140236delinsTTAAA	GRCh37
NC_000007.12:g.91978168_91978172delinsTTAAA	NCBI36
NG_008341.1:g.22610_22614delinsTTTAA
NG_008341.2:g.22610_22614delinsTTTAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1587+22_1587+26delinsTTTAA MANE Select	ENSP00000248633.4:n.1587+22_1587+26delins...
ENST00000248633.8:c.1587+22_1587+26delinsTTTAA	ENSP00000248633.4:n.1587+22_1587+26delins...
ENST00000422866.1:c.488+22_488+26delinsTTTAA
ENST00000428214.5:c.1587+22_1587+26delinsTTTAA	ENSP00000394413.1:n.1587+22_1587+26delins...
ENST00000438045.5:c.621+22_621+26delinsTTTAA	ENSP00000410438.1:n.621+22_621+26delinsTT...
ENST00000476923.1:n.370_374delinsTTTAA
ENST00000484913.5:n.1626+22_1626+26delinsTTTAA
NM_000466.2:c.1587+22_1587+26delinsTTTAA	NP_000457.1:n.1587+22_1587+26delinsTTTAA
NM_001282677.1:c.1587+22_1587+26delinsTTTAA	NP_001269606.1:n.1587+22_1587+26delinsTTT...
NM_001282678.1:c.963+22_963+26delinsTTTAA	NP_001269607.1:n.963+22_963+26delinsTTTAA...
XM_005250433.3:c.-80+22_-80+26delinsTTTAA	XP_005250490.1:n.-80+22_-80+26delinsTTTAA...
XR_242246.3:n.1683+22_1683+26delinsTTTAA
XM_017012319.2:c.-80+22_-80+26delinsTTTAA	XP_016867808.1:n.-80+22_-80+26delinsTTTAA...
XR_001744808.2:n.697+22_697+26delinsTTTAA
XR_242246.5:n.1634+22_1634+26delinsTTTAA
NM_000466.3:c.1587+22_1587+26delinsTTTAA MANE Select	NP_000457.1:n.1587+22_1587+26delinsTTTAA
NM_001282677.2:c.1587+22_1587+26delinsTTTAA	NP_001269606.1:n.1587+22_1587+26delinsTTT...
NM_001282678.2:c.963+22_963+26delinsTTTAA	NP_001269607.1:n.963+22_963+26delinsTTTAA...