Canonical Allele Identifier: CA1725947323

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517438_92517439delinsCT , CM000669.2:g.92517438_92517439delinsCT	GRCh38
NC_000007.13:g.92146752_92146753delinsCT , CM000669.1:g.92146752_92146753delinsCT	GRCh37
NC_000007.12:g.91984688_91984689delinsCT	NCBI36
NG_008341.1:g.16093_16094delinsAG
NG_008341.2:g.16093_16094delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1076_1077delinsAG MANE Select	ENSP00000248633.4:p.Lys359=
ENST00000248633.8:c.1076_1077delinsAG	ENSP00000248633.4:p.Lys359=
ENST00000428214.5:c.1076_1077delinsAG	ENSP00000394413.1:p.Lys359=
ENST00000438045.5:c.274-3472_274-3471delinsAG	ENSP00000410438.1:n.274-3472_274-3471delinsAG
ENST00000484913.5:n.1115_1116delinsAG
NM_000466.2:c.1076_1077delinsAG	NP_000457.1:p.Lys359=
NM_001282677.1:c.1076_1077delinsAG	NP_001269606.1:p.Lys359=
NM_001282678.1:c.452_453delinsAG	NP_001269607.1:p.Lys151=
XR_242246.3:n.1172_1173delinsAG
XM_017012319.2:c.-591_-590delinsAG	XP_016867808.1:n.-591_-590delinsAG
XR_001744808.2:n.186_187delinsAG
XR_242246.5:n.1123_1124delinsAG
NM_000466.3:c.1076_1077delinsAG MANE Select	NP_000457.1:p.Lys359=
NM_001282677.2:c.1076_1077delinsAG	NP_001269606.1:p.Lys359=
NM_001282678.2:c.452_453delinsAG	NP_001269607.1:p.Lys151=