Canonical Allele Identifier: CA1725933378

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496761_92496765delinsCTGAG , CM000669.2:g.92496761_92496765delinsCTGAG	GRCh38
NC_000007.13:g.92126075_92126079delinsCTGAG , CM000669.1:g.92126075_92126079delinsCTGAG	GRCh37
NC_000007.12:g.91964011_91964015delinsCTGAG	NCBI36
NG_008341.1:g.36767_36771delinsCTCAG
NG_008341.2:g.36767_36771delinsCTCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2731_2735delinsCTCAG MANE Select	ENSP00000248633.4:p.Leu911=
ENST00000248633.8:c.2731_2735delinsCTCAG	ENSP00000248633.4:p.Leu911=
ENST00000428214.5:c.2560_2564delinsCTCAG	ENSP00000394413.1:p.Leu854=
ENST00000438045.5:c.1765_1769delinsCTCAG	ENSP00000410438.1:p.Leu589=
ENST00000484913.5:n.2770_2774delinsCTCAG
ENST00000496420.5:n.2623_2627delinsCTCAG
NM_000466.2:c.2731_2735delinsCTCAG	NP_000457.1:p.Leu911=
NM_001282677.1:c.2560_2564delinsCTCAG	NP_001269606.1:p.Leu854=
NM_001282678.1:c.2107_2111delinsCTCAG	NP_001269607.1:p.Leu703=
XM_005250433.3:c.982_986delinsCTCAG	XP_005250490.1:p.Leu328=
XR_242246.3:n.2827_2831delinsCTCAG
XM_017012319.2:c.982_986delinsCTCAG	XP_016867808.1:p.Leu328=
XR_001744808.2:n.1758_1762delinsCTCAG
XR_242246.5:n.2778_2782delinsCTCAG
NM_000466.3:c.2731_2735delinsCTCAG MANE Select	NP_000457.1:p.Leu911=
NM_001282677.2:c.2560_2564delinsCTCAG	NP_001269606.1:p.Leu854=
NM_001282678.2:c.2107_2111delinsCTCAG	NP_001269607.1:p.Leu703=