Canonical Allele Identifier: CA2683718977

Gene: PEX1

Linked Data

• gnomAD v4: 7-92506102-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506102_92506103insA , CM000669.2:g.92506102_92506103insA	GRCh38
NC_000007.13:g.92135416_92135417insA , CM000669.1:g.92135416_92135417insA	GRCh37
NC_000007.12:g.91973352_91973353insA	NCBI36
NG_008341.1:g.27429_27430insT
NG_008341.2:g.27429_27430insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1900+145_1900+146insT MANE Select	ENSP00000248633.4:n.1900+145_1900+146insT
ENST00000248633.8:c.1900+145_1900+146insT	ENSP00000248633.4:n.1900+145_1900+146insT
ENST00000422866.1:c.718+145_718+146insT
ENST00000428214.5:c.1900+145_1900+146insT	ENSP00000394413.1:n.1900+145_1900+146insT
ENST00000438045.5:c.934+145_934+146insT	ENSP00000410438.1:n.934+145_934+146insT
ENST00000484913.5:n.1939+145_1939+146insT
ENST00000496420.5:n.1576+145_1576+146insT
NM_000466.2:c.1900+145_1900+146insT	NP_000457.1:n.1900+145_1900+146insT
NM_001282677.1:c.1900+145_1900+146insT	NP_001269606.1:n.1900+145_1900+146insT
NM_001282678.1:c.1276+145_1276+146insT	NP_001269607.1:n.1276+145_1276+146insT
XM_005250433.3:c.151+145_151+146insT	XP_005250490.1:n.151+145_151+146insT
XR_242246.3:n.1996+145_1996+146insT
XM_017012319.2:c.151+145_151+146insT	XP_016867808.1:n.151+145_151+146insT
XR_001744808.2:n.927+145_927+146insT
XR_242246.5:n.1947+145_1947+146insT
NM_000466.3:c.1900+145_1900+146insT MANE Select	NP_000457.1:n.1900+145_1900+146insT
NM_001282677.2:c.1900+145_1900+146insT	NP_001269606.1:n.1900+145_1900+146insT
NM_001282678.2:c.1276+145_1276+146insT	NP_001269607.1:n.1276+145_1276+146insT