Canonical Allele Identifier: CA2776946050

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494711_92494712insAG , CM000669.2:g.92494711_92494712insAG	GRCh38
NC_000007.13:g.92124025_92124026insAG , CM000669.1:g.92124025_92124026insAG	GRCh37
NC_000007.12:g.91961961_91961962insAG	NCBI36
NG_008341.1:g.38820_38821insCT
NG_008341.2:g.38820_38821insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2784-83_2784-82insCT MANE Select	ENSP00000248633.4:n.2784-83_2784-82insCT
ENST00000248633.8:c.2784-83_2784-82insCT	ENSP00000248633.4:n.2784-83_2784-82insCT
ENST00000428214.5:c.2613-83_2613-82insCT	ENSP00000394413.1:n.2613-83_2613-82insCT
ENST00000438045.5:c.1818-83_1818-82insCT	ENSP00000410438.1:n.1818-83_1818-82insCT
ENST00000484913.5:n.2823-83_2823-82insCT
ENST00000496420.5:n.2676-83_2676-82insCT
NM_000466.2:c.2784-83_2784-82insCT	NP_000457.1:n.2784-83_2784-82insCT
NM_001282677.1:c.2613-83_2613-82insCT	NP_001269606.1:n.2613-83_2613-82insCT
NM_001282678.1:c.2160-83_2160-82insCT	NP_001269607.1:n.2160-83_2160-82insCT
XM_005250433.3:c.1035-83_1035-82insCT	XP_005250490.1:n.1035-83_1035-82insCT
XR_242246.3:n.2880-83_2880-82insCT
XM_017012319.2:c.1035-83_1035-82insCT	XP_016867808.1:n.1035-83_1035-82insCT
XR_001744808.2:n.1811-83_1811-82insCT
XR_242246.5:n.2831-83_2831-82insCT
NM_000466.3:c.2784-83_2784-82insCT MANE Select	NP_000457.1:n.2784-83_2784-82insCT
NM_001282677.2:c.2613-83_2613-82insCT	NP_001269606.1:n.2613-83_2613-82insCT
NM_001282678.2:c.2160-83_2160-82insCT	NP_001269607.1:n.2160-83_2160-82insCT