Canonical Allele Identifier: CA1725935285

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92500005_92500007delinsCTG , CM000669.2:g.92500005_92500007delinsCTG	GRCh38
NC_000007.13:g.92129319_92129321delinsCTG , CM000669.1:g.92129319_92129321delinsCTG	GRCh37
NC_000007.12:g.91967255_91967257delinsCTG	NCBI36
NG_008341.1:g.33525_33527delinsCAG
NG_008341.2:g.33525_33527delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2584-169_2584-167delinsCAG MANE Select	ENSP00000248633.4:n.2584-169_2584-167delinsCAG
ENST00000248633.8:c.2584-169_2584-167delinsCAG	ENSP00000248633.4:n.2584-169_2584-167delinsCAG
ENST00000428214.5:c.2413-169_2413-167delinsCAG	ENSP00000394413.1:n.2413-169_2413-167delinsCAG
ENST00000438045.5:c.1618-169_1618-167delinsCAG	ENSP00000410438.1:n.1618-169_1618-167delinsCAG
ENST00000484913.5:n.2623-169_2623-167delinsCAG
ENST00000496420.5:n.2476-169_2476-167delinsCAG
NM_000466.2:c.2584-169_2584-167delinsCAG	NP_000457.1:n.2584-169_2584-167delinsCAG
NM_001282677.1:c.2413-169_2413-167delinsCAG	NP_001269606.1:n.2413-169_2413-167delinsCAG
NM_001282678.1:c.1960-169_1960-167delinsCAG	NP_001269607.1:n.1960-169_1960-167delinsCAG
XM_005250433.3:c.835-169_835-167delinsCAG	XP_005250490.1:n.835-169_835-167delinsCAG
XR_242246.3:n.2680-169_2680-167delinsCAG
XM_017012319.2:c.835-169_835-167delinsCAG	XP_016867808.1:n.835-169_835-167delinsCAG
XR_001744808.2:n.1611-169_1611-167delinsCAG
XR_242246.5:n.2631-169_2631-167delinsCAG
NM_000466.3:c.2584-169_2584-167delinsCAG MANE Select	NP_000457.1:n.2584-169_2584-167delinsCAG
NM_001282677.2:c.2413-169_2413-167delinsCAG	NP_001269606.1:n.2413-169_2413-167delinsCAG
NM_001282678.2:c.1960-169_1960-167delinsCAG	NP_001269607.1:n.1960-169_1960-167delinsCAG