Canonical Allele Identifier: CA2683718986

Gene: PEX1

Linked Data

• gnomAD v4: 7-92506104-C-CAAAGACTTAAAATTTA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506109_92506110insCTTAAAATTTAAAAGA , CM000669.2:g.92506109_92506110insCTTAAAATTTAAAAGA	GRCh38
NC_000007.13:g.92135423_92135424insCTTAAAATTTAAAAGA , CM000669.1:g.92135423_92135424insCTTAAAATTTAAAAGA	GRCh37
NC_000007.12:g.91973359_91973360insCTTAAAATTTAAAAGA	NCBI36
NG_008341.1:g.27427_27428insTAAATTTTAAGTCTTT
NG_008341.2:g.27427_27428insTAAATTTTAAGTCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1900+143_1900+144insTAAATTTTAAGTCTTT MANE Select	ENSP00000248633.4:n.1900+143_1900+144insTAAATTTTAAGTCTTT
ENST00000248633.8:c.1900+143_1900+144insTAAATTTTAAGTCTTT	ENSP00000248633.4:n.1900+143_1900+144insTAAATTTTAAGTCTTT
ENST00000422866.1:c.718+143_718+144insTAAATTTTAAGTCTTT
ENST00000428214.5:c.1900+143_1900+144insTAAATTTTAAGTCTTT	ENSP00000394413.1:n.1900+143_1900+144insTAAATTTTAAGTCTTT
ENST00000438045.5:c.934+143_934+144insTAAATTTTAAGTCTTT	ENSP00000410438.1:n.934+143_934+144insTAAATTTTAAGTCTTT
ENST00000484913.5:n.1939+143_1939+144insTAAATTTTAAGTCTTT
ENST00000496420.5:n.1576+143_1576+144insTAAATTTTAAGTCTTT
NM_000466.2:c.1900+143_1900+144insTAAATTTTAAGTCTTT	NP_000457.1:n.1900+143_1900+144insTAAATTTTAAGTCTTT
NM_001282677.1:c.1900+143_1900+144insTAAATTTTAAGTCTTT	NP_001269606.1:n.1900+143_1900+144insTAAATTTTAAGTCTTT
NM_001282678.1:c.1276+143_1276+144insTAAATTTTAAGTCTTT	NP_001269607.1:n.1276+143_1276+144insTAAATTTTAAGTCTTT
XM_005250433.3:c.151+143_151+144insTAAATTTTAAGTCTTT	XP_005250490.1:n.151+143_151+144insTAAATTTTAAGTCTTT
XR_242246.3:n.1996+143_1996+144insTAAATTTTAAGTCTTT
XM_017012319.2:c.151+143_151+144insTAAATTTTAAGTCTTT	XP_016867808.1:n.151+143_151+144insTAAATTTTAAGTCTTT
XR_001744808.2:n.927+143_927+144insTAAATTTTAAGTCTTT
XR_242246.5:n.1947+143_1947+144insTAAATTTTAAGTCTTT
NM_000466.3:c.1900+143_1900+144insTAAATTTTAAGTCTTT MANE Select	NP_000457.1:n.1900+143_1900+144insTAAATTTTAAGTCTTT
NM_001282677.2:c.1900+143_1900+144insTAAATTTTAAGTCTTT	NP_001269606.1:n.1900+143_1900+144insTAAATTTTAAGTCTTT
NM_001282678.2:c.1276+143_1276+144insTAAATTTTAAGTCTTT	NP_001269607.1:n.1276+143_1276+144insTAAATTTTAAGTCTTT