Canonical Allele Identifier: CA2776946118

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499979_92499980del , CM000669.2:g.92499979_92499980del	GRCh38
NC_000007.13:g.92129293_92129294del , CM000669.1:g.92129293_92129294del	GRCh37
NC_000007.12:g.91967229_91967230del	NCBI36
NG_008341.1:g.33552_33553del
NG_008341.2:g.33552_33553del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2584-142_2584-141del MANE Select	ENSP00000248633.4:n.2584-142_2584-141del
ENST00000248633.8:c.2584-142_2584-141del	ENSP00000248633.4:n.2584-142_2584-141del
ENST00000428214.5:c.2413-142_2413-141del	ENSP00000394413.1:n.2413-142_2413-141del
ENST00000438045.5:c.1618-142_1618-141del	ENSP00000410438.1:n.1618-142_1618-141del
ENST00000484913.5:n.2623-142_2623-141del
ENST00000496420.5:n.2476-142_2476-141del
NM_000466.2:c.2584-142_2584-141del	NP_000457.1:n.2584-142_2584-141del
NM_001282677.1:c.2413-142_2413-141del	NP_001269606.1:n.2413-142_2413-141del
NM_001282678.1:c.1960-142_1960-141del	NP_001269607.1:n.1960-142_1960-141del
XM_005250433.3:c.835-142_835-141del	XP_005250490.1:n.835-142_835-141del
XR_242246.3:n.2680-142_2680-141del
XM_017012319.2:c.835-142_835-141del	XP_016867808.1:n.835-142_835-141del
XR_001744808.2:n.1611-142_1611-141del
XR_242246.5:n.2631-142_2631-141del
NM_000466.3:c.2584-142_2584-141del MANE Select	NP_000457.1:n.2584-142_2584-141del
NM_001282677.2:c.2413-142_2413-141del	NP_001269606.1:n.2413-142_2413-141del
NM_001282678.2:c.1960-142_1960-141del	NP_001269607.1:n.1960-142_1960-141del