Canonical Allele Identifier: CA2776945960

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494671_92494672insAG , CM000669.2:g.92494671_92494672insAG	GRCh38
NC_000007.13:g.92123985_92123986insAG , CM000669.1:g.92123985_92123986insAG	GRCh37
NC_000007.12:g.91961921_91961922insAG	NCBI36
NG_008341.1:g.38860_38861insCT
NG_008341.2:g.38860_38861insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2784-43_2784-42insCT MANE Select	ENSP00000248633.4:n.2784-43_2784-42insCT
ENST00000248633.8:c.2784-43_2784-42insCT	ENSP00000248633.4:n.2784-43_2784-42insCT
ENST00000428214.5:c.2613-43_2613-42insCT	ENSP00000394413.1:n.2613-43_2613-42insCT
ENST00000438045.5:c.1818-43_1818-42insCT	ENSP00000410438.1:n.1818-43_1818-42insCT
ENST00000484913.5:n.2823-43_2823-42insCT
ENST00000496420.5:n.2676-43_2676-42insCT
NM_000466.2:c.2784-43_2784-42insCT	NP_000457.1:n.2784-43_2784-42insCT
NM_001282677.1:c.2613-43_2613-42insCT	NP_001269606.1:n.2613-43_2613-42insCT
NM_001282678.1:c.2160-43_2160-42insCT	NP_001269607.1:n.2160-43_2160-42insCT
XM_005250433.3:c.1035-43_1035-42insCT	XP_005250490.1:n.1035-43_1035-42insCT
XR_242246.3:n.2880-43_2880-42insCT
XM_017012319.2:c.1035-43_1035-42insCT	XP_016867808.1:n.1035-43_1035-42insCT
XR_001744808.2:n.1811-43_1811-42insCT
XR_242246.5:n.2831-43_2831-42insCT
NM_000466.3:c.2784-43_2784-42insCT MANE Select	NP_000457.1:n.2784-43_2784-42insCT
NM_001282677.2:c.2613-43_2613-42insCT	NP_001269606.1:n.2613-43_2613-42insCT
NM_001282678.2:c.2160-43_2160-42insCT	NP_001269607.1:n.2160-43_2160-42insCT