Canonical Allele Identifier: CA2776946106

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499957_92499959del , CM000669.2:g.92499957_92499959del	GRCh38
NC_000007.13:g.92129271_92129273del , CM000669.1:g.92129271_92129273del	GRCh37
NC_000007.12:g.91967207_91967209del	NCBI36
NG_008341.1:g.33573_33575del
NG_008341.2:g.33573_33575del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2584-121_2584-119del MANE Select	ENSP00000248633.4:n.2584-121_2584-119del
ENST00000248633.8:c.2584-121_2584-119del	ENSP00000248633.4:n.2584-121_2584-119del
ENST00000428214.5:c.2413-121_2413-119del	ENSP00000394413.1:n.2413-121_2413-119del
ENST00000438045.5:c.1618-121_1618-119del	ENSP00000410438.1:n.1618-121_1618-119del
ENST00000484913.5:n.2623-121_2623-119del
ENST00000496420.5:n.2476-121_2476-119del
NM_000466.2:c.2584-121_2584-119del	NP_000457.1:n.2584-121_2584-119del
NM_001282677.1:c.2413-121_2413-119del	NP_001269606.1:n.2413-121_2413-119del
NM_001282678.1:c.1960-121_1960-119del	NP_001269607.1:n.1960-121_1960-119del
XM_005250433.3:c.835-121_835-119del	XP_005250490.1:n.835-121_835-119del
XR_242246.3:n.2680-121_2680-119del
XM_017012319.2:c.835-121_835-119del	XP_016867808.1:n.835-121_835-119del
XR_001744808.2:n.1611-121_1611-119del
XR_242246.5:n.2631-121_2631-119del
NM_000466.3:c.2584-121_2584-119del MANE Select	NP_000457.1:n.2584-121_2584-119del
NM_001282677.2:c.2413-121_2413-119del	NP_001269606.1:n.2413-121_2413-119del
NM_001282678.2:c.1960-121_1960-119del	NP_001269607.1:n.1960-121_1960-119del