Canonical Allele Identifier: CA2776945631

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496832_92496833insA , CM000669.2:g.92496832_92496833insA	GRCh38
NC_000007.13:g.92126146_92126147insA , CM000669.1:g.92126146_92126147insA	GRCh37
NC_000007.12:g.91964082_91964083insA	NCBI36
NG_008341.1:g.36699_36700insT
NG_008341.2:g.36699_36700insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2719-56_2719-55insT MANE Select	ENSP00000248633.4:n.2719-56_2719-55insT
ENST00000248633.8:c.2719-56_2719-55insT	ENSP00000248633.4:n.2719-56_2719-55insT
ENST00000428214.5:c.2548-56_2548-55insT	ENSP00000394413.1:n.2548-56_2548-55insT
ENST00000438045.5:c.1753-56_1753-55insT	ENSP00000410438.1:n.1753-56_1753-55insT
ENST00000484913.5:n.2758-56_2758-55insT
ENST00000496420.5:n.2611-56_2611-55insT
NM_000466.2:c.2719-56_2719-55insT	NP_000457.1:n.2719-56_2719-55insT
NM_001282677.1:c.2548-56_2548-55insT	NP_001269606.1:n.2548-56_2548-55insT
NM_001282678.1:c.2095-56_2095-55insT	NP_001269607.1:n.2095-56_2095-55insT
XM_005250433.3:c.970-56_970-55insT	XP_005250490.1:n.970-56_970-55insT
XR_242246.3:n.2815-56_2815-55insT
XM_017012319.2:c.970-56_970-55insT	XP_016867808.1:n.970-56_970-55insT
XR_001744808.2:n.1746-56_1746-55insT
XR_242246.5:n.2766-56_2766-55insT
NM_000466.3:c.2719-56_2719-55insT MANE Select	NP_000457.1:n.2719-56_2719-55insT
NM_001282677.2:c.2548-56_2548-55insT	NP_001269606.1:n.2548-56_2548-55insT
NM_001282678.2:c.2095-56_2095-55insT	NP_001269607.1:n.2095-56_2095-55insT