Canonical Allele Identifier: CA2683719012

Gene: PEX1

Linked Data

• gnomAD v4: 7-92506105-AAAGAAATT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506106_92506113del , CM000669.2:g.92506106_92506113del	GRCh38
NC_000007.13:g.92135420_92135427del , CM000669.1:g.92135420_92135427del	GRCh37
NC_000007.12:g.91973356_91973363del	NCBI36
NG_008341.1:g.27419_27426del
NG_008341.2:g.27419_27426del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1900+135_1900+142del MANE Select	ENSP00000248633.4:n.1900+135_1900+142del
ENST00000248633.8:c.1900+135_1900+142del	ENSP00000248633.4:n.1900+135_1900+142del
ENST00000422866.1:c.718+135_718+142del
ENST00000428214.5:c.1900+135_1900+142del	ENSP00000394413.1:n.1900+135_1900+142del
ENST00000438045.5:c.934+135_934+142del	ENSP00000410438.1:n.934+135_934+142del
ENST00000484913.5:n.1939+135_1939+142del
ENST00000496420.5:n.1576+135_1576+142del
NM_000466.2:c.1900+135_1900+142del	NP_000457.1:n.1900+135_1900+142del
NM_001282677.1:c.1900+135_1900+142del	NP_001269606.1:n.1900+135_1900+142del
NM_001282678.1:c.1276+135_1276+142del	NP_001269607.1:n.1276+135_1276+142del
XM_005250433.3:c.151+135_151+142del	XP_005250490.1:n.151+135_151+142del
XR_242246.3:n.1996+135_1996+142del
XM_017012319.2:c.151+135_151+142del	XP_016867808.1:n.151+135_151+142del
XR_001744808.2:n.927+135_927+142del
XR_242246.5:n.1947+135_1947+142del
NM_000466.3:c.1900+135_1900+142del MANE Select	NP_000457.1:n.1900+135_1900+142del
NM_001282677.2:c.1900+135_1900+142del	NP_001269606.1:n.1900+135_1900+142del
NM_001282678.2:c.1276+135_1276+142del	NP_001269607.1:n.1276+135_1276+142del