Canonical Allele Identifier: CA1104469378

Gene: PEX1

Linked Data

• dbSNP Id: rs1792175330
• gnomAD v3: 7-92506110-A-AAAATTTCTAAGAC
• gnomAD v4: 7-92506110-A-AAAATTTCTAAGAC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506111_92506112insAATTTCTAAGACA , CM000669.2:g.92506111_92506112insAATTTCTAAGACA	GRCh38
NC_000007.13:g.92135425_92135426insAATTTCTAAGACA , CM000669.1:g.92135425_92135426insAATTTCTAAGACA	GRCh37
NC_000007.12:g.91973361_91973362insAATTTCTAAGACA	NCBI36
NG_008341.1:g.27421_27422insGTCTTAGAAATTT
NG_008341.2:g.27421_27422insGTCTTAGAAATTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1900+137_1900+138insGTCTTAGAAATTT MANE Select	ENSP00000248633.4:n.1900+137_1900+138insGTCTTAGAAATTT
ENST00000248633.8:c.1900+137_1900+138insGTCTTAGAAATTT	ENSP00000248633.4:n.1900+137_1900+138insGTCTTAGAAATTT
ENST00000422866.1:c.718+137_718+138insGTCTTAGAAATTT
ENST00000428214.5:c.1900+137_1900+138insGTCTTAGAAATTT	ENSP00000394413.1:n.1900+137_1900+138insGTCTTAGAAATTT
ENST00000438045.5:c.934+137_934+138insGTCTTAGAAATTT	ENSP00000410438.1:n.934+137_934+138insGTCTTAGAAATTT
ENST00000484913.5:n.1939+137_1939+138insGTCTTAGAAATTT
ENST00000496420.5:n.1576+137_1576+138insGTCTTAGAAATTT
NM_000466.2:c.1900+137_1900+138insGTCTTAGAAATTT	NP_000457.1:n.1900+137_1900+138insGTCTTAGAAATTT
NM_001282677.1:c.1900+137_1900+138insGTCTTAGAAATTT	NP_001269606.1:n.1900+137_1900+138insGTCTTAGAAATTT
NM_001282678.1:c.1276+137_1276+138insGTCTTAGAAATTT	NP_001269607.1:n.1276+137_1276+138insGTCTTAGAAATTT
XM_005250433.3:c.151+137_151+138insGTCTTAGAAATTT	XP_005250490.1:n.151+137_151+138insGTCTTAGAAATTT
XR_242246.3:n.1996+137_1996+138insGTCTTAGAAATTT
XM_017012319.2:c.151+137_151+138insGTCTTAGAAATTT	XP_016867808.1:n.151+137_151+138insGTCTTAGAAATTT
XR_001744808.2:n.927+137_927+138insGTCTTAGAAATTT
XR_242246.5:n.1947+137_1947+138insGTCTTAGAAATTT
NM_000466.3:c.1900+137_1900+138insGTCTTAGAAATTT MANE Select	NP_000457.1:n.1900+137_1900+138insGTCTTAGAAATTT
NM_001282677.2:c.1900+137_1900+138insGTCTTAGAAATTT	NP_001269606.1:n.1900+137_1900+138insGTCTTAGAAATTT
NM_001282678.2:c.1276+137_1276+138insGTCTTAGAAATTT	NP_001269607.1:n.1276+137_1276+138insGTCTTAGAAATTT