Canonical Allele Identifier: CA1725935292

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92500018_92500022delinsCAAAG , CM000669.2:g.92500018_92500022delinsCAAAG	GRCh38
NC_000007.13:g.92129332_92129336delinsCAAAG , CM000669.1:g.92129332_92129336delinsCAAAG	GRCh37
NC_000007.12:g.91967268_91967272delinsCAAAG	NCBI36
NG_008341.1:g.33510_33514delinsCTTTG
NG_008341.2:g.33510_33514delinsCTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2584-184_2584-180delinsCTTTG MANE Select	ENSP00000248633.4:n.2584-184_2584-180delinsCTTTG
ENST00000248633.8:c.2584-184_2584-180delinsCTTTG	ENSP00000248633.4:n.2584-184_2584-180delinsCTTTG
ENST00000428214.5:c.2413-184_2413-180delinsCTTTG	ENSP00000394413.1:n.2413-184_2413-180delinsCTTTG
ENST00000438045.5:c.1618-184_1618-180delinsCTTTG	ENSP00000410438.1:n.1618-184_1618-180delinsCTTTG
ENST00000484913.5:n.2623-184_2623-180delinsCTTTG
ENST00000496420.5:n.2476-184_2476-180delinsCTTTG
NM_000466.2:c.2584-184_2584-180delinsCTTTG	NP_000457.1:n.2584-184_2584-180delinsCTTTG
NM_001282677.1:c.2413-184_2413-180delinsCTTTG	NP_001269606.1:n.2413-184_2413-180delinsCTTTG
NM_001282678.1:c.1960-184_1960-180delinsCTTTG	NP_001269607.1:n.1960-184_1960-180delinsCTTTG
XM_005250433.3:c.835-184_835-180delinsCTTTG	XP_005250490.1:n.835-184_835-180delinsCTTTG
XR_242246.3:n.2680-184_2680-180delinsCTTTG
XM_017012319.2:c.835-184_835-180delinsCTTTG	XP_016867808.1:n.835-184_835-180delinsCTTTG
XR_001744808.2:n.1611-184_1611-180delinsCTTTG
XR_242246.5:n.2631-184_2631-180delinsCTTTG
NM_000466.3:c.2584-184_2584-180delinsCTTTG MANE Select	NP_000457.1:n.2584-184_2584-180delinsCTTTG
NM_001282677.2:c.2413-184_2413-180delinsCTTTG	NP_001269606.1:n.2413-184_2413-180delinsCTTTG
NM_001282678.2:c.1960-184_1960-180delinsCTTTG	NP_001269607.1:n.1960-184_1960-180delinsCTTTG