Canonical Allele Identifier: CA1725937885

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92510995_92511001delinsATCTTTT , CM000669.2:g.92510995_92511001delinsATCTTTT	GRCh38
NC_000007.13:g.92140309_92140315delinsATCTTTT , CM000669.1:g.92140309_92140315delinsATCTTTT	GRCh37
NC_000007.12:g.91978245_91978251delinsATCTTTT	NCBI36
NG_008341.1:g.22531_22537delinsAAAAGAT
NG_008341.2:g.22531_22537delinsAAAAGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1530_1536delinsAAAAGAT MANE Select	ENSP00000248633.4:p.Glu510=
ENST00000248633.8:c.1530_1536delinsAAAAGAT	ENSP00000248633.4:p.Glu510=
ENST00000422866.1:c.431_437delinsAAAAGAT
ENST00000428214.5:c.1530_1536delinsAAAAGAT	ENSP00000394413.1:p.Glu510=
ENST00000438045.5:c.564_570delinsAAAAGAT	ENSP00000410438.1:p.Glu188=
ENST00000476923.1:n.291_297delinsAAAAGAT
ENST00000484913.5:n.1569_1575delinsAAAAGAT
NM_000466.2:c.1530_1536delinsAAAAGAT	NP_000457.1:p.Glu510=
NM_001282677.1:c.1530_1536delinsAAAAGAT	NP_001269606.1:p.Glu510=
NM_001282678.1:c.906_912delinsAAAAGAT	NP_001269607.1:p.Glu302=
XM_005250433.3:c.-137_-131delinsAAAAGAT	XP_005250490.1:n.-137_-131delinsAAAAGAT
XR_242246.3:n.1626_1632delinsAAAAGAT
XM_017012319.2:c.-137_-131delinsAAAAGAT	XP_016867808.1:n.-137_-131delinsAAAAGAT
XR_001744808.2:n.640_646delinsAAAAGAT
XR_242246.5:n.1577_1583delinsAAAAGAT
NM_000466.3:c.1530_1536delinsAAAAGAT MANE Select	NP_000457.1:p.Glu510=
NM_001282677.2:c.1530_1536delinsAAAAGAT	NP_001269606.1:p.Glu510=
NM_001282678.2:c.906_912delinsAAAAGAT	NP_001269607.1:p.Glu302=