Canonical Allele Identifier: CA1725933407

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496772_92496773delinsTG , CM000669.2:g.92496772_92496773delinsTG	GRCh38
NC_000007.13:g.92126086_92126087delinsTG , CM000669.1:g.92126086_92126087delinsTG	GRCh37
NC_000007.12:g.91964022_91964023delinsTG	NCBI36
NG_008341.1:g.36759_36760delinsCA
NG_008341.2:g.36759_36760delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2723_2724delinsCA MANE Select	ENSP00000248633.4:p.Pro908=
ENST00000248633.8:c.2723_2724delinsCA	ENSP00000248633.4:p.Pro908=
ENST00000428214.5:c.2552_2553delinsCA	ENSP00000394413.1:p.Pro851=
ENST00000438045.5:c.1757_1758delinsCA	ENSP00000410438.1:p.Pro586=
ENST00000484913.5:n.2762_2763delinsCA
ENST00000496420.5:n.2615_2616delinsCA
NM_000466.2:c.2723_2724delinsCA	NP_000457.1:p.Pro908=
NM_001282677.1:c.2552_2553delinsCA	NP_001269606.1:p.Pro851=
NM_001282678.1:c.2099_2100delinsCA	NP_001269607.1:p.Pro700=
XM_005250433.3:c.974_975delinsCA	XP_005250490.1:p.Pro325=
XR_242246.3:n.2819_2820delinsCA
XM_017012319.2:c.974_975delinsCA	XP_016867808.1:p.Pro325=
XR_001744808.2:n.1750_1751delinsCA
XR_242246.5:n.2770_2771delinsCA
NM_000466.3:c.2723_2724delinsCA MANE Select	NP_000457.1:p.Pro908=
NM_001282677.2:c.2552_2553delinsCA	NP_001269606.1:p.Pro851=
NM_001282678.2:c.2099_2100delinsCA	NP_001269607.1:p.Pro700=