Canonical Allele Identifier: CA2776946479

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504963_92504964insAGT , CM000669.2:g.92504963_92504964insAGT	GRCh38
NC_000007.13:g.92134277_92134278insAGT , CM000669.1:g.92134277_92134278insAGT	GRCh37
NC_000007.12:g.91972213_91972214insAGT	NCBI36
NG_008341.1:g.28568_28569insACT
NG_008341.2:g.28568_28569insACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1901-62_1901-61insACT MANE Select	ENSP00000248633.4:n.1901-62_1901-61insACT
ENST00000248633.8:c.1901-62_1901-61insACT	ENSP00000248633.4:n.1901-62_1901-61insACT
ENST00000422866.1:c.719-62_719-61insACT
ENST00000428214.5:c.1900+1284_1900+1285insACT	ENSP00000394413.1:n.1900+1284_1900+1285insACT
ENST00000438045.5:c.935-62_935-61insACT	ENSP00000410438.1:n.935-62_935-61insACT
ENST00000484913.5:n.1940-62_1940-61insACT
ENST00000496420.5:n.1577-62_1577-61insACT
NM_000466.2:c.1901-62_1901-61insACT	NP_000457.1:n.1901-62_1901-61insACT
NM_001282677.1:c.1900+1284_1900+1285insACT	NP_001269606.1:n.1900+1284_1900+1285insACT
NM_001282678.1:c.1277-62_1277-61insACT	NP_001269607.1:n.1277-62_1277-61insACT
XM_005250433.3:c.152-62_152-61insACT	XP_005250490.1:n.152-62_152-61insACT
XR_242246.3:n.1997-62_1997-61insACT
XM_017012319.2:c.152-62_152-61insACT	XP_016867808.1:n.152-62_152-61insACT
XR_001744808.2:n.928-62_928-61insACT
XR_242246.5:n.1948-62_1948-61insACT
NM_000466.3:c.1901-62_1901-61insACT MANE Select	NP_000457.1:n.1901-62_1901-61insACT
NM_001282677.2:c.1900+1284_1900+1285insACT	NP_001269606.1:n.1900+1284_1900+1285insACT
NM_001282678.2:c.1277-62_1277-61insACT	NP_001269607.1:n.1277-62_1277-61insACT