Canonical Allele Identifier: CA1725939089

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504875_92504877delinsGTT , CM000669.2:g.92504875_92504877delinsGTT	GRCh38
NC_000007.13:g.92134189_92134191delinsGTT , CM000669.1:g.92134189_92134191delinsGTT	GRCh37
NC_000007.12:g.91972125_91972127delinsGTT	NCBI36
NG_008341.1:g.28655_28657delinsAAC
NG_008341.2:g.28655_28657delinsAAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1926_1928delinsAAC MANE Select	ENSP00000248633.4:p.Lys642=
ENST00000248633.8:c.1926_1928delinsAAC	ENSP00000248633.4:p.Lys642=
ENST00000428214.5:c.1900+1371_1900+1373delinsAAC	ENSP00000394413.1:n.1900+1371_1900+1373de...
ENST00000438045.5:c.960_962delinsAAC	ENSP00000410438.1:p.Lys320=
ENST00000484913.5:n.1965_1967delinsAAC
ENST00000496420.5:n.1602_1604delinsAAC
NM_000466.2:c.1926_1928delinsAAC	NP_000457.1:p.Lys642=
NM_001282677.1:c.1900+1371_1900+1373delinsAAC	NP_001269606.1:n.1900+1371_1900+1373delin...
NM_001282678.1:c.1302_1304delinsAAC	NP_001269607.1:p.Lys434=
XM_005250433.3:c.177_179delinsAAC	XP_005250490.1:p.Lys59=
XR_242246.3:n.2022_2024delinsAAC
XM_017012319.2:c.177_179delinsAAC	XP_016867808.1:p.Lys59=
XR_001744808.2:n.953_955delinsAAC
XR_242246.5:n.1973_1975delinsAAC
NM_000466.3:c.1926_1928delinsAAC MANE Select	NP_000457.1:p.Lys642=
NM_001282677.2:c.1900+1371_1900+1373delinsAAC	NP_001269606.1:n.1900+1371_1900+1373delin...
NM_001282678.2:c.1302_1304delinsAAC	NP_001269607.1:p.Lys434=