Canonical Allele Identifier: CA2776945675

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496900_92496901insACC , CM000669.2:g.92496900_92496901insACC	GRCh38
NC_000007.13:g.92126214_92126215insACC , CM000669.1:g.92126214_92126215insACC	GRCh37
NC_000007.12:g.91964150_91964151insACC	NCBI36
NG_008341.1:g.36631_36632insGGT
NG_008341.2:g.36631_36632insGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2719-124_2719-123insGGT MANE Select	ENSP00000248633.4:n.2719-124_2719-123insGGT
ENST00000248633.8:c.2719-124_2719-123insGGT	ENSP00000248633.4:n.2719-124_2719-123insGGT
ENST00000428214.5:c.2548-124_2548-123insGGT	ENSP00000394413.1:n.2548-124_2548-123insGGT
ENST00000438045.5:c.1753-124_1753-123insGGT	ENSP00000410438.1:n.1753-124_1753-123insGGT
ENST00000484913.5:n.2758-124_2758-123insGGT
ENST00000496420.5:n.2611-124_2611-123insGGT
NM_000466.2:c.2719-124_2719-123insGGT	NP_000457.1:n.2719-124_2719-123insGGT
NM_001282677.1:c.2548-124_2548-123insGGT	NP_001269606.1:n.2548-124_2548-123insGGT
NM_001282678.1:c.2095-124_2095-123insGGT	NP_001269607.1:n.2095-124_2095-123insGGT
XM_005250433.3:c.970-124_970-123insGGT	XP_005250490.1:n.970-124_970-123insGGT
XR_242246.3:n.2815-124_2815-123insGGT
XM_017012319.2:c.970-124_970-123insGGT	XP_016867808.1:n.970-124_970-123insGGT
XR_001744808.2:n.1746-124_1746-123insGGT
XR_242246.5:n.2766-124_2766-123insGGT
NM_000466.3:c.2719-124_2719-123insGGT MANE Select	NP_000457.1:n.2719-124_2719-123insGGT
NM_001282677.2:c.2548-124_2548-123insGGT	NP_001269606.1:n.2548-124_2548-123insGGT
NM_001282678.2:c.2095-124_2095-123insGGT	NP_001269607.1:n.2095-124_2095-123insGGT