Canonical Allele Identifier: CA1725937911

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92511003_92511004delinsCT , CM000669.2:g.92511003_92511004delinsCT	GRCh38
NC_000007.13:g.92140317_92140318delinsCT , CM000669.1:g.92140317_92140318delinsCT	GRCh37
NC_000007.12:g.91978253_91978254delinsCT	NCBI36
NG_008341.1:g.22528_22529delinsAG
NG_008341.2:g.22528_22529delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1527_1528delinsAG MANE Select	ENSP00000248633.4:p.Lys509=
ENST00000248633.8:c.1527_1528delinsAG	ENSP00000248633.4:p.Lys509=
ENST00000422866.1:c.428_429delinsAG
ENST00000428214.5:c.1527_1528delinsAG	ENSP00000394413.1:p.Lys509=
ENST00000438045.5:c.561_562delinsAG	ENSP00000410438.1:p.Lys187=
ENST00000476923.1:n.288_289delinsAG
ENST00000484913.5:n.1566_1567delinsAG
NM_000466.2:c.1527_1528delinsAG	NP_000457.1:p.Lys509=
NM_001282677.1:c.1527_1528delinsAG	NP_001269606.1:p.Lys509=
NM_001282678.1:c.903_904delinsAG	NP_001269607.1:p.Lys301=
XM_005250433.3:c.-140_-139delinsAG	XP_005250490.1:n.-140_-139delinsAG
XR_242246.3:n.1623_1624delinsAG
XM_017012319.2:c.-140_-139delinsAG	XP_016867808.1:n.-140_-139delinsAG
XR_001744808.2:n.637_638delinsAG
XR_242246.5:n.1574_1575delinsAG
NM_000466.3:c.1527_1528delinsAG MANE Select	NP_000457.1:p.Lys509=
NM_001282677.2:c.1527_1528delinsAG	NP_001269606.1:p.Lys509=
NM_001282678.2:c.903_904delinsAG	NP_001269607.1:p.Lys301=