Canonical Allele Identifier: CA1725941011

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506221_92506223delinsTTA , CM000669.2:g.92506221_92506223delinsTTA	GRCh38
NC_000007.13:g.92135535_92135537delinsTTA , CM000669.1:g.92135535_92135537delinsTTA	GRCh37
NC_000007.12:g.91973471_91973473delinsTTA	NCBI36
NG_008341.1:g.27309_27311delinsTAA
NG_008341.2:g.27309_27311delinsTAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1900+25_1900+27delinsTAA MANE Select	ENSP00000248633.4:n.1900+25_1900+27delins...
ENST00000248633.8:c.1900+25_1900+27delinsTAA	ENSP00000248633.4:n.1900+25_1900+27delins...
ENST00000422866.1:c.718+25_718+27delinsTAA
ENST00000428214.5:c.1900+25_1900+27delinsTAA	ENSP00000394413.1:n.1900+25_1900+27delins...
ENST00000438045.5:c.934+25_934+27delinsTAA	ENSP00000410438.1:n.934+25_934+27delinsTA...
ENST00000484913.5:n.1939+25_1939+27delinsTAA
ENST00000496420.5:n.1576+25_1576+27delinsTAA
NM_000466.2:c.1900+25_1900+27delinsTAA	NP_000457.1:n.1900+25_1900+27delinsTAA
NM_001282677.1:c.1900+25_1900+27delinsTAA	NP_001269606.1:n.1900+25_1900+27delinsTAA...
NM_001282678.1:c.1276+25_1276+27delinsTAA	NP_001269607.1:n.1276+25_1276+27delinsTAA...
XM_005250433.3:c.151+25_151+27delinsTAA	XP_005250490.1:n.151+25_151+27delinsTAA
XR_242246.3:n.1996+25_1996+27delinsTAA
XM_017012319.2:c.151+25_151+27delinsTAA	XP_016867808.1:n.151+25_151+27delinsTAA
XR_001744808.2:n.927+25_927+27delinsTAA
XR_242246.5:n.1947+25_1947+27delinsTAA
NM_000466.3:c.1900+25_1900+27delinsTAA MANE Select	NP_000457.1:n.1900+25_1900+27delinsTAA
NM_001282677.2:c.1900+25_1900+27delinsTAA	NP_001269606.1:n.1900+25_1900+27delinsTAA...
NM_001282678.2:c.1276+25_1276+27delinsTAA	NP_001269607.1:n.1276+25_1276+27delinsTAA...