Canonical Allele Identifier: CA2776945956

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494666_92494667insACAA , CM000669.2:g.92494666_92494667insACAA	GRCh38
NC_000007.13:g.92123980_92123981insACAA , CM000669.1:g.92123980_92123981insACAA	GRCh37
NC_000007.12:g.91961916_91961917insACAA	NCBI36
NG_008341.1:g.38865_38866insTTGT
NG_008341.2:g.38865_38866insTTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2784-38_2784-37insTTGT MANE Select	ENSP00000248633.4:n.2784-38_2784-37insTTGT
ENST00000248633.8:c.2784-38_2784-37insTTGT	ENSP00000248633.4:n.2784-38_2784-37insTTGT
ENST00000428214.5:c.2613-38_2613-37insTTGT	ENSP00000394413.1:n.2613-38_2613-37insTTGT
ENST00000438045.5:c.1818-38_1818-37insTTGT	ENSP00000410438.1:n.1818-38_1818-37insTTGT
ENST00000484913.5:n.2823-38_2823-37insTTGT
ENST00000496420.5:n.2676-38_2676-37insTTGT
NM_000466.2:c.2784-38_2784-37insTTGT	NP_000457.1:n.2784-38_2784-37insTTGT
NM_001282677.1:c.2613-38_2613-37insTTGT	NP_001269606.1:n.2613-38_2613-37insTTGT
NM_001282678.1:c.2160-38_2160-37insTTGT	NP_001269607.1:n.2160-38_2160-37insTTGT
XM_005250433.3:c.1035-38_1035-37insTTGT	XP_005250490.1:n.1035-38_1035-37insTTGT
XR_242246.3:n.2880-38_2880-37insTTGT
XM_017012319.2:c.1035-38_1035-37insTTGT	XP_016867808.1:n.1035-38_1035-37insTTGT
XR_001744808.2:n.1811-38_1811-37insTTGT
XR_242246.5:n.2831-38_2831-37insTTGT
NM_000466.3:c.2784-38_2784-37insTTGT MANE Select	NP_000457.1:n.2784-38_2784-37insTTGT
NM_001282677.2:c.2613-38_2613-37insTTGT	NP_001269606.1:n.2613-38_2613-37insTTGT
NM_001282678.2:c.2160-38_2160-37insTTGT	NP_001269607.1:n.2160-38_2160-37insTTGT