Canonical Allele Identifier: CA2776946462

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504949_92504950insAGTT , CM000669.2:g.92504949_92504950insAGTT	GRCh38
NC_000007.13:g.92134263_92134264insAGTT , CM000669.1:g.92134263_92134264insAGTT	GRCh37
NC_000007.12:g.91972199_91972200insAGTT	NCBI36
NG_008341.1:g.28582_28583insAACT
NG_008341.2:g.28582_28583insAACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1901-48_1901-47insAACT MANE Select	ENSP00000248633.4:n.1901-48_1901-47insAACT
ENST00000248633.8:c.1901-48_1901-47insAACT	ENSP00000248633.4:n.1901-48_1901-47insAACT
ENST00000422866.1:c.719-48_719-47insAACT
ENST00000428214.5:c.1900+1298_1900+1299insAACT	ENSP00000394413.1:n.1900+1298_1900+1299insAACT
ENST00000438045.5:c.935-48_935-47insAACT	ENSP00000410438.1:n.935-48_935-47insAACT
ENST00000484913.5:n.1940-48_1940-47insAACT
ENST00000496420.5:n.1577-48_1577-47insAACT
NM_000466.2:c.1901-48_1901-47insAACT	NP_000457.1:n.1901-48_1901-47insAACT
NM_001282677.1:c.1900+1298_1900+1299insAACT	NP_001269606.1:n.1900+1298_1900+1299insAACT
NM_001282678.1:c.1277-48_1277-47insAACT	NP_001269607.1:n.1277-48_1277-47insAACT
XM_005250433.3:c.152-48_152-47insAACT	XP_005250490.1:n.152-48_152-47insAACT
XR_242246.3:n.1997-48_1997-47insAACT
XM_017012319.2:c.152-48_152-47insAACT	XP_016867808.1:n.152-48_152-47insAACT
XR_001744808.2:n.928-48_928-47insAACT
XR_242246.5:n.1948-48_1948-47insAACT
NM_000466.3:c.1901-48_1901-47insAACT MANE Select	NP_000457.1:n.1901-48_1901-47insAACT
NM_001282677.2:c.1900+1298_1900+1299insAACT	NP_001269606.1:n.1900+1298_1900+1299insAACT
NM_001282678.2:c.1277-48_1277-47insAACT	NP_001269607.1:n.1277-48_1277-47insAACT