Canonical Allele Identifier: CA1725940977

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506199_92506203delinsGTCTT , CM000669.2:g.92506199_92506203delinsGTCTT	GRCh38
NC_000007.13:g.92135513_92135517delinsGTCTT , CM000669.1:g.92135513_92135517delinsGTCTT	GRCh37
NC_000007.12:g.91973449_91973453delinsGTCTT	NCBI36
NG_008341.1:g.27329_27333delinsAAGAC
NG_008341.2:g.27329_27333delinsAAGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1900+45_1900+49delinsAAGAC MANE Select	ENSP00000248633.4:n.1900+45_1900+49delinsAAGAC
ENST00000248633.8:c.1900+45_1900+49delinsAAGAC	ENSP00000248633.4:n.1900+45_1900+49delinsAAGAC
ENST00000422866.1:c.718+45_718+49delinsAAGAC
ENST00000428214.5:c.1900+45_1900+49delinsAAGAC	ENSP00000394413.1:n.1900+45_1900+49delinsAAGAC
ENST00000438045.5:c.934+45_934+49delinsAAGAC	ENSP00000410438.1:n.934+45_934+49delinsAAGAC
ENST00000484913.5:n.1939+45_1939+49delinsAAGAC
ENST00000496420.5:n.1576+45_1576+49delinsAAGAC
NM_000466.2:c.1900+45_1900+49delinsAAGAC	NP_000457.1:n.1900+45_1900+49delinsAAGAC
NM_001282677.1:c.1900+45_1900+49delinsAAGAC	NP_001269606.1:n.1900+45_1900+49delinsAAGAC
NM_001282678.1:c.1276+45_1276+49delinsAAGAC	NP_001269607.1:n.1276+45_1276+49delinsAAGAC
XM_005250433.3:c.151+45_151+49delinsAAGAC	XP_005250490.1:n.151+45_151+49delinsAAGAC
XR_242246.3:n.1996+45_1996+49delinsAAGAC
XM_017012319.2:c.151+45_151+49delinsAAGAC	XP_016867808.1:n.151+45_151+49delinsAAGAC
XR_001744808.2:n.927+45_927+49delinsAAGAC
XR_242246.5:n.1947+45_1947+49delinsAAGAC
NM_000466.3:c.1900+45_1900+49delinsAAGAC MANE Select	NP_000457.1:n.1900+45_1900+49delinsAAGAC
NM_001282677.2:c.1900+45_1900+49delinsAAGAC	NP_001269606.1:n.1900+45_1900+49delinsAAGAC
NM_001282678.2:c.1276+45_1276+49delinsAAGAC	NP_001269607.1:n.1276+45_1276+49delinsAAGAC