Canonical Allele Identifier: CA2683719041

Gene: PEX1

Linked Data

• gnomAD v4: 7-92506107-A-AGACTTAAAATTTCTAG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506109_92506110insCTTAAAATTTCTAGGA , CM000669.2:g.92506109_92506110insCTTAAAATTTCTAGGA	GRCh38
NC_000007.13:g.92135423_92135424insCTTAAAATTTCTAGGA , CM000669.1:g.92135423_92135424insCTTAAAATTTCTAGGA	GRCh37
NC_000007.12:g.91973359_91973360insCTTAAAATTTCTAGGA	NCBI36
NG_008341.1:g.27424_27425insCTAGAAATTTTAAGTC
NG_008341.2:g.27424_27425insCTAGAAATTTTAAGTC

Transcript Alleles

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