Canonical Allele Identifier: CA2683718092

Gene: PEX1

Linked Data

• gnomAD v4: 7-92496662-G-GATAAATA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496667_92496673dup , CM000669.2:g.92496667_92496673dup	GRCh38
NC_000007.13:g.92125981_92125987dup , CM000669.1:g.92125981_92125987dup	GRCh37
NC_000007.12:g.91963917_91963923dup	NCBI36
NG_008341.1:g.36863_36869dup
NG_008341.2:g.36863_36869dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2783+44_2783+50dup MANE Select	ENSP00000248633.4:n.2783+44_2783+50dup
ENST00000248633.8:c.2783+44_2783+50dup	ENSP00000248633.4:n.2783+44_2783+50dup
ENST00000428214.5:c.2612+44_2612+50dup	ENSP00000394413.1:n.2612+44_2612+50dup
ENST00000438045.5:c.1817+44_1817+50dup	ENSP00000410438.1:n.1817+44_1817+50dup
ENST00000484913.5:n.2822+44_2822+50dup
ENST00000496420.5:n.2675+44_2675+50dup
NM_000466.2:c.2783+44_2783+50dup	NP_000457.1:n.2783+44_2783+50dup
NM_001282677.1:c.2612+44_2612+50dup	NP_001269606.1:n.2612+44_2612+50dup
NM_001282678.1:c.2159+44_2159+50dup	NP_001269607.1:n.2159+44_2159+50dup
XM_005250433.3:c.1034+44_1034+50dup	XP_005250490.1:n.1034+44_1034+50dup
XR_242246.3:n.2879+44_2879+50dup
XM_017012319.2:c.1034+44_1034+50dup	XP_016867808.1:n.1034+44_1034+50dup
XR_001744808.2:n.1810+44_1810+50dup
XR_242246.5:n.2830+44_2830+50dup
NM_000466.3:c.2783+44_2783+50dup MANE Select	NP_000457.1:n.2783+44_2783+50dup
NM_001282677.2:c.2612+44_2612+50dup	NP_001269606.1:n.2612+44_2612+50dup
NM_001282678.2:c.2159+44_2159+50dup	NP_001269607.1:n.2159+44_2159+50dup