Canonical Allele Identifier: CA2831039195

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503056_92503059del , CM000669.2:g.92503056_92503059del	GRCh38
NC_000007.13:g.92132370_92132373del , CM000669.1:g.92132370_92132373del	GRCh37
NC_000007.12:g.91970306_91970309del	NCBI36
NG_008341.1:g.30475_30478del
NG_008341.2:g.30475_30478del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2210_2213del MANE Select	ENSP00000248633.4:p.Ile737SerfsTer15
ENST00000248633.8:c.2210_2213del	ENSP00000248633.4:p.Ile737SerfsTer15
ENST00000428214.5:c.2039_2042del	ENSP00000394413.1:p.Ile680SerfsTer15
ENST00000438045.5:c.1244_1247del	ENSP00000410438.1:p.Ile415SerfsTer15
ENST00000484913.5:n.2249_2252del
ENST00000496092.1:n.8_11del
ENST00000496420.5:n.1886_1889del
NM_000466.2:c.2210_2213del	NP_000457.1:p.Ile737SerfsTer15
NM_001282677.1:c.2039_2042del	NP_001269606.1:p.Ile680SerfsTer15
NM_001282678.1:c.1586_1589del	NP_001269607.1:p.Ile529SerfsTer15
XM_005250433.3:c.461_464del	XP_005250490.1:p.Ile154SerfsTer15
XR_242246.3:n.2306_2309del
XM_017012319.2:c.461_464del	XP_016867808.1:p.Ile154SerfsTer15
XR_001744808.2:n.1237_1240del
XR_242246.5:n.2257_2260del
NM_000466.3:c.2210_2213del MANE Select	NP_000457.1:p.Ile737SerfsTer15
NM_001282677.2:c.2039_2042del	NP_001269606.1:p.Ile680SerfsTer15
NM_001282678.2:c.1586_1589del	NP_001269607.1:p.Ile529SerfsTer15