Canonical Allele Identifier: CA2578938191

Gene: PEX1

Linked Data

• gnomAD v4: 7-92517269-T-TACTA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517272_92517275dup , CM000669.2:g.92517272_92517275dup	GRCh38
NC_000007.13:g.92146586_92146589dup , CM000669.1:g.92146586_92146589dup	GRCh37
NC_000007.12:g.91984522_91984525dup	NCBI36
NG_008341.1:g.16259_16262dup
NG_008341.2:g.16259_16262dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1239+3_1239+6dup MANE Select	ENSP00000248633.4:n.1239+3_1239+6dup
ENST00000248633.8:c.1239+3_1239+6dup	ENSP00000248633.4:n.1239+3_1239+6dup
ENST00000422866.1:c.140+3_140+6dup
ENST00000428214.5:c.1239+3_1239+6dup	ENSP00000394413.1:n.1239+3_1239+6dup
ENST00000438045.5:c.274-3306_274-3303dup	ENSP00000410438.1:n.274-3306_274-3303dup
ENST00000484913.5:n.1278+3_1278+6dup
NM_000466.2:c.1239+3_1239+6dup	NP_000457.1:n.1239+3_1239+6dup
NM_001282677.1:c.1239+3_1239+6dup	NP_001269606.1:n.1239+3_1239+6dup
NM_001282678.1:c.615+3_615+6dup	NP_001269607.1:n.615+3_615+6dup
XR_242246.3:n.1335+3_1335+6dup
XM_017012319.2:c.-428+3_-428+6dup	XP_016867808.1:n.-428+3_-428+6dup
XR_001744808.2:n.349+3_349+6dup
XR_242246.5:n.1286+3_1286+6dup
NM_000466.3:c.1239+3_1239+6dup MANE Select	NP_000457.1:n.1239+3_1239+6dup
NM_001282677.2:c.1239+3_1239+6dup	NP_001269606.1:n.1239+3_1239+6dup
NM_001282678.2:c.615+3_615+6dup	NP_001269607.1:n.615+3_615+6dup