Canonical Allele Identifier: CA1725947693

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517678_92517679delinsCT , CM000669.2:g.92517678_92517679delinsCT	GRCh38
NC_000007.13:g.92146992_92146993delinsCT , CM000669.1:g.92146992_92146993delinsCT	GRCh37
NC_000007.12:g.91984928_91984929delinsCT	NCBI36
NG_008341.1:g.15853_15854delinsAG
NG_008341.2:g.15853_15854delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.836_837delinsAG MANE Select	ENSP00000248633.4:p.Lys279=
ENST00000248633.8:c.836_837delinsAG	ENSP00000248633.4:p.Lys279=
ENST00000428214.5:c.836_837delinsAG	ENSP00000394413.1:p.Lys279=
ENST00000438045.5:c.274-3712_274-3711delinsAG	ENSP00000410438.1:n.274-3712_274-3711delinsAG
ENST00000484913.5:n.875_876delinsAG
NM_000466.2:c.836_837delinsAG	NP_000457.1:p.Lys279=
NM_001282677.1:c.836_837delinsAG	NP_001269606.1:p.Lys279=
NM_001282678.1:c.212_213delinsAG	NP_001269607.1:p.Lys71=
XR_242246.3:n.932_933delinsAG
XR_242246.5:n.883_884delinsAG
NM_000466.3:c.836_837delinsAG MANE Select	NP_000457.1:p.Lys279=
NM_001282677.2:c.836_837delinsAG	NP_001269606.1:p.Lys279=
NM_001282678.2:c.212_213delinsAG	NP_001269607.1:p.Lys71=