Canonical Allele Identifier: CA2683719052

Gene: PEX1

Linked Data

• gnomAD v4: 7-92506112-T-TTTCTAAGAAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506114_92506115insCTAAGAAAGTT , CM000669.2:g.92506114_92506115insCTAAGAAAGTT	GRCh38
NC_000007.13:g.92135428_92135429insCTAAGAAAGTT , CM000669.1:g.92135428_92135429insCTAAGAAAGTT	GRCh37
NC_000007.12:g.91973364_91973365insCTAAGAAAGTT	NCBI36
NG_008341.1:g.27419_27420insCTTTCTTAGAA
NG_008341.2:g.27419_27420insCTTTCTTAGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1900+135_1900+136insCTTTCTTAGAA MANE Select	ENSP00000248633.4:n.1900+135_1900+136insCTTTCTTAGAA
ENST00000248633.8:c.1900+135_1900+136insCTTTCTTAGAA	ENSP00000248633.4:n.1900+135_1900+136insCTTTCTTAGAA
ENST00000422866.1:c.718+135_718+136insCTTTCTTAGAA
ENST00000428214.5:c.1900+135_1900+136insCTTTCTTAGAA	ENSP00000394413.1:n.1900+135_1900+136insCTTTCTTAGAA
ENST00000438045.5:c.934+135_934+136insCTTTCTTAGAA	ENSP00000410438.1:n.934+135_934+136insCTTTCTTAGAA
ENST00000484913.5:n.1939+135_1939+136insCTTTCTTAGAA
ENST00000496420.5:n.1576+135_1576+136insCTTTCTTAGAA
NM_000466.2:c.1900+135_1900+136insCTTTCTTAGAA	NP_000457.1:n.1900+135_1900+136insCTTTCTTAGAA
NM_001282677.1:c.1900+135_1900+136insCTTTCTTAGAA	NP_001269606.1:n.1900+135_1900+136insCTTTCTTAGAA
NM_001282678.1:c.1276+135_1276+136insCTTTCTTAGAA	NP_001269607.1:n.1276+135_1276+136insCTTTCTTAGAA
XM_005250433.3:c.151+135_151+136insCTTTCTTAGAA	XP_005250490.1:n.151+135_151+136insCTTTCTTAGAA
XR_242246.3:n.1996+135_1996+136insCTTTCTTAGAA
XM_017012319.2:c.151+135_151+136insCTTTCTTAGAA	XP_016867808.1:n.151+135_151+136insCTTTCTTAGAA
XR_001744808.2:n.927+135_927+136insCTTTCTTAGAA
XR_242246.5:n.1947+135_1947+136insCTTTCTTAGAA
NM_000466.3:c.1900+135_1900+136insCTTTCTTAGAA MANE Select	NP_000457.1:n.1900+135_1900+136insCTTTCTTAGAA
NM_001282677.2:c.1900+135_1900+136insCTTTCTTAGAA	NP_001269606.1:n.1900+135_1900+136insCTTTCTTAGAA
NM_001282678.2:c.1276+135_1276+136insCTTTCTTAGAA	NP_001269607.1:n.1276+135_1276+136insCTTTCTTAGAA