Canonical Allele Identifier: CA2776946577

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92505017_92505018insAGC , CM000669.2:g.92505017_92505018insAGC	GRCh38
NC_000007.13:g.92134331_92134332insAGC , CM000669.1:g.92134331_92134332insAGC	GRCh37
NC_000007.12:g.91972267_91972268insAGC	NCBI36
NG_008341.1:g.28514_28515insGCT
NG_008341.2:g.28514_28515insGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1901-116_1901-115insGCT MANE Select	ENSP00000248633.4:n.1901-116_1901-115insGCT
ENST00000248633.8:c.1901-116_1901-115insGCT	ENSP00000248633.4:n.1901-116_1901-115insGCT
ENST00000422866.1:c.719-116_719-115insGCT
ENST00000428214.5:c.1900+1230_1900+1231insGCT	ENSP00000394413.1:n.1900+1230_1900+1231insGCT
ENST00000438045.5:c.935-116_935-115insGCT	ENSP00000410438.1:n.935-116_935-115insGCT
ENST00000484913.5:n.1940-116_1940-115insGCT
ENST00000496420.5:n.1577-116_1577-115insGCT
NM_000466.2:c.1901-116_1901-115insGCT	NP_000457.1:n.1901-116_1901-115insGCT
NM_001282677.1:c.1900+1230_1900+1231insGCT	NP_001269606.1:n.1900+1230_1900+1231insGCT
NM_001282678.1:c.1277-116_1277-115insGCT	NP_001269607.1:n.1277-116_1277-115insGCT
XM_005250433.3:c.152-116_152-115insGCT	XP_005250490.1:n.152-116_152-115insGCT
XR_242246.3:n.1997-116_1997-115insGCT
XM_017012319.2:c.152-116_152-115insGCT	XP_016867808.1:n.152-116_152-115insGCT
XR_001744808.2:n.928-116_928-115insGCT
XR_242246.5:n.1948-116_1948-115insGCT
NM_000466.3:c.1901-116_1901-115insGCT MANE Select	NP_000457.1:n.1901-116_1901-115insGCT
NM_001282677.2:c.1900+1230_1900+1231insGCT	NP_001269606.1:n.1900+1230_1900+1231insGCT
NM_001282678.2:c.1277-116_1277-115insGCT	NP_001269607.1:n.1277-116_1277-115insGCT