Canonical Allele Identifier: CA2683719040

Gene: PEX1

Linked Data

• gnomAD v4: 7-92506107-A-AGACTTAAAATTTCTAT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506109_92506110insCTTAAAATTTCTATGA , CM000669.2:g.92506109_92506110insCTTAAAATTTCTATGA	GRCh38
NC_000007.13:g.92135423_92135424insCTTAAAATTTCTATGA , CM000669.1:g.92135423_92135424insCTTAAAATTTCTATGA	GRCh37
NC_000007.12:g.91973359_91973360insCTTAAAATTTCTATGA	NCBI36
NG_008341.1:g.27424_27425insATAGAAATTTTAAGTC
NG_008341.2:g.27424_27425insATAGAAATTTTAAGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1900+140_1900+141insATAGAAATTTTAAGTC MANE Select	ENSP00000248633.4:n.1900+140_1900+141insATAGAAATTTTAAGTC
ENST00000248633.8:c.1900+140_1900+141insATAGAAATTTTAAGTC	ENSP00000248633.4:n.1900+140_1900+141insATAGAAATTTTAAGTC
ENST00000422866.1:c.718+140_718+141insATAGAAATTTTAAGTC
ENST00000428214.5:c.1900+140_1900+141insATAGAAATTTTAAGTC	ENSP00000394413.1:n.1900+140_1900+141insATAGAAATTTTAAGTC
ENST00000438045.5:c.934+140_934+141insATAGAAATTTTAAGTC	ENSP00000410438.1:n.934+140_934+141insATAGAAATTTTAAGTC
ENST00000484913.5:n.1939+140_1939+141insATAGAAATTTTAAGTC
ENST00000496420.5:n.1576+140_1576+141insATAGAAATTTTAAGTC
NM_000466.2:c.1900+140_1900+141insATAGAAATTTTAAGTC	NP_000457.1:n.1900+140_1900+141insATAGAAATTTTAAGTC
NM_001282677.1:c.1900+140_1900+141insATAGAAATTTTAAGTC	NP_001269606.1:n.1900+140_1900+141insATAGAAATTTTAAGTC
NM_001282678.1:c.1276+140_1276+141insATAGAAATTTTAAGTC	NP_001269607.1:n.1276+140_1276+141insATAGAAATTTTAAGTC
XM_005250433.3:c.151+140_151+141insATAGAAATTTTAAGTC	XP_005250490.1:n.151+140_151+141insATAGAAATTTTAAGTC
XR_242246.3:n.1996+140_1996+141insATAGAAATTTTAAGTC
XM_017012319.2:c.151+140_151+141insATAGAAATTTTAAGTC	XP_016867808.1:n.151+140_151+141insATAGAAATTTTAAGTC
XR_001744808.2:n.927+140_927+141insATAGAAATTTTAAGTC
XR_242246.5:n.1947+140_1947+141insATAGAAATTTTAAGTC
NM_000466.3:c.1900+140_1900+141insATAGAAATTTTAAGTC MANE Select	NP_000457.1:n.1900+140_1900+141insATAGAAATTTTAAGTC
NM_001282677.2:c.1900+140_1900+141insATAGAAATTTTAAGTC	NP_001269606.1:n.1900+140_1900+141insATAGAAATTTTAAGTC
NM_001282678.2:c.1276+140_1276+141insATAGAAATTTTAAGTC	NP_001269607.1:n.1276+140_1276+141insATAGAAATTTTAAGTC