Canonical Allele Identifier: CA2683719039

Gene: PEX1

Linked Data

• gnomAD v4: 7-92506106-A-AAGACTTAAAATTTCTT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506109_92506110insCTTAAAATTTCTTAGA , CM000669.2:g.92506109_92506110insCTTAAAATTTCTTAGA	GRCh38
NC_000007.13:g.92135423_92135424insCTTAAAATTTCTTAGA , CM000669.1:g.92135423_92135424insCTTAAAATTTCTTAGA	GRCh37
NC_000007.12:g.91973359_91973360insCTTAAAATTTCTTAGA	NCBI36
NG_008341.1:g.27425_27426insAAGAAATTTTAAGTCT
NG_008341.2:g.27425_27426insAAGAAATTTTAAGTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1900+141_1900+142insAAGAAATTTTAAGTCT MANE Select	ENSP00000248633.4:n.1900+141_1900+142insAAGAAATTTTAAGTCT
ENST00000248633.8:c.1900+141_1900+142insAAGAAATTTTAAGTCT	ENSP00000248633.4:n.1900+141_1900+142insAAGAAATTTTAAGTCT
ENST00000422866.1:c.718+141_718+142insAAGAAATTTTAAGTCT
ENST00000428214.5:c.1900+141_1900+142insAAGAAATTTTAAGTCT	ENSP00000394413.1:n.1900+141_1900+142insAAGAAATTTTAAGTCT
ENST00000438045.5:c.934+141_934+142insAAGAAATTTTAAGTCT	ENSP00000410438.1:n.934+141_934+142insAAGAAATTTTAAGTCT
ENST00000484913.5:n.1939+141_1939+142insAAGAAATTTTAAGTCT
ENST00000496420.5:n.1576+141_1576+142insAAGAAATTTTAAGTCT
NM_000466.2:c.1900+141_1900+142insAAGAAATTTTAAGTCT	NP_000457.1:n.1900+141_1900+142insAAGAAATTTTAAGTCT
NM_001282677.1:c.1900+141_1900+142insAAGAAATTTTAAGTCT	NP_001269606.1:n.1900+141_1900+142insAAGAAATTTTAAGTCT
NM_001282678.1:c.1276+141_1276+142insAAGAAATTTTAAGTCT	NP_001269607.1:n.1276+141_1276+142insAAGAAATTTTAAGTCT
XM_005250433.3:c.151+141_151+142insAAGAAATTTTAAGTCT	XP_005250490.1:n.151+141_151+142insAAGAAATTTTAAGTCT
XR_242246.3:n.1996+141_1996+142insAAGAAATTTTAAGTCT
XM_017012319.2:c.151+141_151+142insAAGAAATTTTAAGTCT	XP_016867808.1:n.151+141_151+142insAAGAAATTTTAAGTCT
XR_001744808.2:n.927+141_927+142insAAGAAATTTTAAGTCT
XR_242246.5:n.1947+141_1947+142insAAGAAATTTTAAGTCT
NM_000466.3:c.1900+141_1900+142insAAGAAATTTTAAGTCT MANE Select	NP_000457.1:n.1900+141_1900+142insAAGAAATTTTAAGTCT
NM_001282677.2:c.1900+141_1900+142insAAGAAATTTTAAGTCT	NP_001269606.1:n.1900+141_1900+142insAAGAAATTTTAAGTCT
NM_001282678.2:c.1276+141_1276+142insAAGAAATTTTAAGTCT	NP_001269607.1:n.1276+141_1276+142insAAGAAATTTTAAGTCT