Canonical Allele Identifier: CA1725941186

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506305_92506306delinsCT , CM000669.2:g.92506305_92506306delinsCT	GRCh38
NC_000007.13:g.92135619_92135620delinsCT , CM000669.1:g.92135619_92135620delinsCT	GRCh37
NC_000007.12:g.91973555_91973556delinsCT	NCBI36
NG_008341.1:g.27226_27227delinsAG
NG_008341.2:g.27226_27227delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1842_1843delinsAG MANE Select	ENSP00000248633.4:p.Lys614=
ENST00000248633.8:c.1842_1843delinsAG	ENSP00000248633.4:p.Lys614=
ENST00000422866.1:c.660_661delinsAG
ENST00000428214.5:c.1842_1843delinsAG	ENSP00000394413.1:p.Lys614=
ENST00000438045.5:c.876_877delinsAG	ENSP00000410438.1:p.Lys292=
ENST00000484913.5:n.1881_1882delinsAG
ENST00000496420.5:n.1518_1519delinsAG
NM_000466.2:c.1842_1843delinsAG	NP_000457.1:p.Lys614=
NM_001282677.1:c.1842_1843delinsAG	NP_001269606.1:p.Lys614=
NM_001282678.1:c.1218_1219delinsAG	NP_001269607.1:p.Lys406=
XM_005250433.3:c.93_94delinsAG	XP_005250490.1:p.Lys31=
XR_242246.3:n.1938_1939delinsAG
XM_017012319.2:c.93_94delinsAG	XP_016867808.1:p.Lys31=
XR_001744808.2:n.869_870delinsAG
XR_242246.5:n.1889_1890delinsAG
NM_000466.3:c.1842_1843delinsAG MANE Select	NP_000457.1:p.Lys614=
NM_001282677.2:c.1842_1843delinsAG	NP_001269606.1:p.Lys614=
NM_001282678.2:c.1218_1219delinsAG	NP_001269607.1:p.Lys406=