Canonical Allele Identifier: CA2683719066

Gene: PEX1

Linked Data

• gnomAD v4: 7-92506118-T-TGACTAAATGATAAACAGAAAAGTTAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506124_92506150dup , CM000669.2:g.92506124_92506150dup	GRCh38
NC_000007.13:g.92135438_92135464dup , CM000669.1:g.92135438_92135464dup	GRCh37
NC_000007.12:g.91973374_91973400dup	NCBI36
NG_008341.1:g.27387_27413dup
NG_008341.2:g.27387_27413dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1900+103_1900+129dup MANE Select	ENSP00000248633.4:n.1900+103_1900+129dup
ENST00000248633.8:c.1900+103_1900+129dup	ENSP00000248633.4:n.1900+103_1900+129dup
ENST00000422866.1:c.718+103_718+129dup
ENST00000428214.5:c.1900+103_1900+129dup	ENSP00000394413.1:n.1900+103_1900+129dup
ENST00000438045.5:c.934+103_934+129dup	ENSP00000410438.1:n.934+103_934+129dup
ENST00000484913.5:n.1939+103_1939+129dup
ENST00000496420.5:n.1576+103_1576+129dup
NM_000466.2:c.1900+103_1900+129dup	NP_000457.1:n.1900+103_1900+129dup
NM_001282677.1:c.1900+103_1900+129dup	NP_001269606.1:n.1900+103_1900+129dup
NM_001282678.1:c.1276+103_1276+129dup	NP_001269607.1:n.1276+103_1276+129dup
XM_005250433.3:c.151+103_151+129dup	XP_005250490.1:n.151+103_151+129dup
XR_242246.3:n.1996+103_1996+129dup
XM_017012319.2:c.151+103_151+129dup	XP_016867808.1:n.151+103_151+129dup
XR_001744808.2:n.927+103_927+129dup
XR_242246.5:n.1947+103_1947+129dup
NM_000466.3:c.1900+103_1900+129dup MANE Select	NP_000457.1:n.1900+103_1900+129dup
NM_001282677.2:c.1900+103_1900+129dup	NP_001269606.1:n.1900+103_1900+129dup
NM_001282678.2:c.1276+103_1276+129dup	NP_001269607.1:n.1276+103_1276+129dup