Canonical Allele Identifier: CA2776946453

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504938_92504939insACA , CM000669.2:g.92504938_92504939insACA	GRCh38
NC_000007.13:g.92134252_92134253insACA , CM000669.1:g.92134252_92134253insACA	GRCh37
NC_000007.12:g.91972188_91972189insACA	NCBI36
NG_008341.1:g.28593_28594insTGT
NG_008341.2:g.28593_28594insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1901-37_1901-36insTGT MANE Select	ENSP00000248633.4:n.1901-37_1901-36insTGT
ENST00000248633.8:c.1901-37_1901-36insTGT	ENSP00000248633.4:n.1901-37_1901-36insTGT
ENST00000422866.1:c.719-37_719-36insTGT
ENST00000428214.5:c.1900+1309_1900+1310insTGT	ENSP00000394413.1:n.1900+1309_1900+1310insTGT
ENST00000438045.5:c.935-37_935-36insTGT	ENSP00000410438.1:n.935-37_935-36insTGT
ENST00000484913.5:n.1940-37_1940-36insTGT
ENST00000496420.5:n.1577-37_1577-36insTGT
NM_000466.2:c.1901-37_1901-36insTGT	NP_000457.1:n.1901-37_1901-36insTGT
NM_001282677.1:c.1900+1309_1900+1310insTGT	NP_001269606.1:n.1900+1309_1900+1310insTGT
NM_001282678.1:c.1277-37_1277-36insTGT	NP_001269607.1:n.1277-37_1277-36insTGT
XM_005250433.3:c.152-37_152-36insTGT	XP_005250490.1:n.152-37_152-36insTGT
XR_242246.3:n.1997-37_1997-36insTGT
XM_017012319.2:c.152-37_152-36insTGT	XP_016867808.1:n.152-37_152-36insTGT
XR_001744808.2:n.928-37_928-36insTGT
XR_242246.5:n.1948-37_1948-36insTGT
NM_000466.3:c.1901-37_1901-36insTGT MANE Select	NP_000457.1:n.1901-37_1901-36insTGT
NM_001282677.2:c.1900+1309_1900+1310insTGT	NP_001269606.1:n.1900+1309_1900+1310insTGT
NM_001282678.2:c.1277-37_1277-36insTGT	NP_001269607.1:n.1277-37_1277-36insTGT