Canonical Allele Identifier: CA2776946096

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499945_92499946insA , CM000669.2:g.92499945_92499946insA	GRCh38
NC_000007.13:g.92129259_92129260insA , CM000669.1:g.92129259_92129260insA	GRCh37
NC_000007.12:g.91967195_91967196insA	NCBI36
NG_008341.1:g.33586_33587insT
NG_008341.2:g.33586_33587insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2584-108_2584-107insT MANE Select	ENSP00000248633.4:n.2584-108_2584-107insT
ENST00000248633.8:c.2584-108_2584-107insT	ENSP00000248633.4:n.2584-108_2584-107insT
ENST00000428214.5:c.2413-108_2413-107insT	ENSP00000394413.1:n.2413-108_2413-107insT
ENST00000438045.5:c.1618-108_1618-107insT	ENSP00000410438.1:n.1618-108_1618-107insT
ENST00000484913.5:n.2623-108_2623-107insT
ENST00000496420.5:n.2476-108_2476-107insT
NM_000466.2:c.2584-108_2584-107insT	NP_000457.1:n.2584-108_2584-107insT
NM_001282677.1:c.2413-108_2413-107insT	NP_001269606.1:n.2413-108_2413-107insT
NM_001282678.1:c.1960-108_1960-107insT	NP_001269607.1:n.1960-108_1960-107insT
XM_005250433.3:c.835-108_835-107insT	XP_005250490.1:n.835-108_835-107insT
XR_242246.3:n.2680-108_2680-107insT
XM_017012319.2:c.835-108_835-107insT	XP_016867808.1:n.835-108_835-107insT
XR_001744808.2:n.1611-108_1611-107insT
XR_242246.5:n.2631-108_2631-107insT
NM_000466.3:c.2584-108_2584-107insT MANE Select	NP_000457.1:n.2584-108_2584-107insT
NM_001282677.2:c.2413-108_2413-107insT	NP_001269606.1:n.2413-108_2413-107insT
NM_001282678.2:c.1960-108_1960-107insT	NP_001269607.1:n.1960-108_1960-107insT