Canonical Allele Identifier: CA2776946100

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499947_92499952del , CM000669.2:g.92499947_92499952del	GRCh38
NC_000007.13:g.92129261_92129266del , CM000669.1:g.92129261_92129266del	GRCh37
NC_000007.12:g.91967197_91967202del	NCBI36
NG_008341.1:g.33580_33585del
NG_008341.2:g.33580_33585del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2584-114_2584-109del MANE Select	ENSP00000248633.4:n.2584-114_2584-109del
ENST00000248633.8:c.2584-114_2584-109del	ENSP00000248633.4:n.2584-114_2584-109del
ENST00000428214.5:c.2413-114_2413-109del	ENSP00000394413.1:n.2413-114_2413-109del
ENST00000438045.5:c.1618-114_1618-109del	ENSP00000410438.1:n.1618-114_1618-109del
ENST00000484913.5:n.2623-114_2623-109del
ENST00000496420.5:n.2476-114_2476-109del
NM_000466.2:c.2584-114_2584-109del	NP_000457.1:n.2584-114_2584-109del
NM_001282677.1:c.2413-114_2413-109del	NP_001269606.1:n.2413-114_2413-109del
NM_001282678.1:c.1960-114_1960-109del	NP_001269607.1:n.1960-114_1960-109del
XM_005250433.3:c.835-114_835-109del	XP_005250490.1:n.835-114_835-109del
XR_242246.3:n.2680-114_2680-109del
XM_017012319.2:c.835-114_835-109del	XP_016867808.1:n.835-114_835-109del
XR_001744808.2:n.1611-114_1611-109del
XR_242246.5:n.2631-114_2631-109del
NM_000466.3:c.2584-114_2584-109del MANE Select	NP_000457.1:n.2584-114_2584-109del
NM_001282677.2:c.2413-114_2413-109del	NP_001269606.1:n.2413-114_2413-109del
NM_001282678.2:c.1960-114_1960-109del	NP_001269607.1:n.1960-114_1960-109del