Canonical Allele Identifier: CA2695207997

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517619_92517620dup , CM000669.2:g.92517619_92517620dup	GRCh38
NC_000007.13:g.92146933_92146934dup , CM000669.1:g.92146933_92146934dup	GRCh37
NC_000007.12:g.91984869_91984870dup	NCBI36
NG_008341.1:g.15912_15913dup
NG_008341.2:g.15912_15913dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.895_896dup MANE Select	ENSP00000248633.4:p.Asn299LysfsTer27
ENST00000248633.8:c.895_896dup	ENSP00000248633.4:p.Asn299LysfsTer27
ENST00000428214.5:c.895_896dup	ENSP00000394413.1:p.Asn299LysfsTer27
ENST00000438045.5:c.274-3653_274-3652dup	ENSP00000410438.1:n.274-3653_274-3652dup
ENST00000484913.5:n.934_935dup
NM_000466.2:c.895_896dup	NP_000457.1:p.Asn299LysfsTer27
NM_001282677.1:c.895_896dup	NP_001269606.1:p.Asn299LysfsTer27
NM_001282678.1:c.271_272dup	NP_001269607.1:p.Asn91LysfsTer27
XR_242246.3:n.991_992dup
XM_017012319.2:c.-772_-771dup	XP_016867808.1:n.-772_-771dup
XR_001744808.2:n.5_6dup
XR_242246.5:n.942_943dup
NM_000466.3:c.895_896dup MANE Select	NP_000457.1:p.Asn299LysfsTer27
NM_001282677.2:c.895_896dup	NP_001269606.1:p.Asn299LysfsTer27
NM_001282678.2:c.271_272dup	NP_001269607.1:p.Asn91LysfsTer27