Canonical Allele Identifier: CA2683718014

Gene: PEX1

Linked Data

• gnomAD v4: 7-92494716-T-TTATG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494720_92494723dup , CM000669.2:g.92494720_92494723dup	GRCh38
NC_000007.13:g.92124034_92124037dup , CM000669.1:g.92124034_92124037dup	GRCh37
NC_000007.12:g.91961970_91961973dup	NCBI36
NG_008341.1:g.38812_38815dup
NG_008341.2:g.38812_38815dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2784-91_2784-88dup MANE Select	ENSP00000248633.4:n.2784-91_2784-88dup
ENST00000248633.8:c.2784-91_2784-88dup	ENSP00000248633.4:n.2784-91_2784-88dup
ENST00000428214.5:c.2613-91_2613-88dup	ENSP00000394413.1:n.2613-91_2613-88dup
ENST00000438045.5:c.1818-91_1818-88dup	ENSP00000410438.1:n.1818-91_1818-88dup
ENST00000484913.5:n.2823-91_2823-88dup
ENST00000496420.5:n.2676-91_2676-88dup
NM_000466.2:c.2784-91_2784-88dup	NP_000457.1:n.2784-91_2784-88dup
NM_001282677.1:c.2613-91_2613-88dup	NP_001269606.1:n.2613-91_2613-88dup
NM_001282678.1:c.2160-91_2160-88dup	NP_001269607.1:n.2160-91_2160-88dup
XM_005250433.3:c.1035-91_1035-88dup	XP_005250490.1:n.1035-91_1035-88dup
XR_242246.3:n.2880-91_2880-88dup
XM_017012319.2:c.1035-91_1035-88dup	XP_016867808.1:n.1035-91_1035-88dup
XR_001744808.2:n.1811-91_1811-88dup
XR_242246.5:n.2831-91_2831-88dup
NM_000466.3:c.2784-91_2784-88dup MANE Select	NP_000457.1:n.2784-91_2784-88dup
NM_001282677.2:c.2613-91_2613-88dup	NP_001269606.1:n.2613-91_2613-88dup
NM_001282678.2:c.2160-91_2160-88dup	NP_001269607.1:n.2160-91_2160-88dup