Canonical Allele Identifier: CA1725941912

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506945_92506947delinsGAA , CM000669.2:g.92506945_92506947delinsGAA	GRCh38
NC_000007.13:g.92136259_92136261delinsGAA , CM000669.1:g.92136259_92136261delinsGAA	GRCh37
NC_000007.12:g.91974195_91974197delinsGAA	NCBI36
NG_008341.1:g.26585_26587delinsTTC
NG_008341.2:g.26585_26587delinsTTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1803+47_1803+49delinsTTC MANE Select	ENSP00000248633.4:n.1803+47_1803+49delins...
ENST00000248633.8:c.1803+47_1803+49delinsTTC	ENSP00000248633.4:n.1803+47_1803+49delins...
ENST00000422866.1:c.621+47_621+49delinsTTC
ENST00000428214.5:c.1803+47_1803+49delinsTTC	ENSP00000394413.1:n.1803+47_1803+49delins...
ENST00000438045.5:c.837+47_837+49delinsTTC	ENSP00000410438.1:n.837+47_837+49delinsTT...
ENST00000484913.5:n.1842+47_1842+49delinsTTC
ENST00000496420.5:n.877_879delinsTTC
NM_000466.2:c.1803+47_1803+49delinsTTC	NP_000457.1:n.1803+47_1803+49delinsTTC
NM_001282677.1:c.1803+47_1803+49delinsTTC	NP_001269606.1:n.1803+47_1803+49delinsTTC...
NM_001282678.1:c.1179+47_1179+49delinsTTC	NP_001269607.1:n.1179+47_1179+49delinsTTC...
XM_005250433.3:c.54+47_54+49delinsTTC	XP_005250490.1:n.54+47_54+49delinsTTC
XR_242246.3:n.1899+47_1899+49delinsTTC
XM_017012319.2:c.54+47_54+49delinsTTC	XP_016867808.1:n.54+47_54+49delinsTTC
XR_001744808.2:n.830+47_830+49delinsTTC
XR_242246.5:n.1850+47_1850+49delinsTTC
NM_000466.3:c.1803+47_1803+49delinsTTC MANE Select	NP_000457.1:n.1803+47_1803+49delinsTTC
NM_001282677.2:c.1803+47_1803+49delinsTTC	NP_001269606.1:n.1803+47_1803+49delinsTTC...
NM_001282678.2:c.1179+47_1179+49delinsTTC	NP_001269607.1:n.1179+47_1179+49delinsTTC...