Canonical Allele Identifier: CA1725941218

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506317_92506319delinsCTT , CM000669.2:g.92506317_92506319delinsCTT	GRCh38
NC_000007.13:g.92135631_92135633delinsCTT , CM000669.1:g.92135631_92135633delinsCTT	GRCh37
NC_000007.12:g.91973567_91973569delinsCTT	NCBI36
NG_008341.1:g.27213_27215delinsAAG
NG_008341.2:g.27213_27215delinsAAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1829_1831delinsAAG MANE Select	ENSP00000248633.4:p.Lys610=
ENST00000248633.8:c.1829_1831delinsAAG	ENSP00000248633.4:p.Lys610=
ENST00000422866.1:c.647_649delinsAAG
ENST00000428214.5:c.1829_1831delinsAAG	ENSP00000394413.1:p.Lys610=
ENST00000438045.5:c.863_865delinsAAG	ENSP00000410438.1:p.Lys288=
ENST00000484913.5:n.1868_1870delinsAAG
ENST00000496420.5:n.1505_1507delinsAAG
NM_000466.2:c.1829_1831delinsAAG	NP_000457.1:p.Lys610=
NM_001282677.1:c.1829_1831delinsAAG	NP_001269606.1:p.Lys610=
NM_001282678.1:c.1205_1207delinsAAG	NP_001269607.1:p.Lys402=
XM_005250433.3:c.80_82delinsAAG	XP_005250490.1:p.Lys27=
XR_242246.3:n.1925_1927delinsAAG
XM_017012319.2:c.80_82delinsAAG	XP_016867808.1:p.Lys27=
XR_001744808.2:n.856_858delinsAAG
XR_242246.5:n.1876_1878delinsAAG
NM_000466.3:c.1829_1831delinsAAG MANE Select	NP_000457.1:p.Lys610=
NM_001282677.2:c.1829_1831delinsAAG	NP_001269606.1:p.Lys610=
NM_001282678.2:c.1205_1207delinsAAG	NP_001269607.1:p.Lys402=