Canonical Allele Identifier: CA2776946445

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504904_92504910del , CM000669.2:g.92504904_92504910del	GRCh38
NC_000007.13:g.92134218_92134224del , CM000669.1:g.92134218_92134224del	GRCh37
NC_000007.12:g.91972154_91972160del	NCBI36
NG_008341.1:g.28623_28629del
NG_008341.2:g.28623_28629del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1901-7_1901-1del MANE Select	ENSP00000248633.4:n.1901-7_1901-1del
ENST00000248633.8:c.1901-7_1901-1del	ENSP00000248633.4:n.1901-7_1901-1del
ENST00000422866.1:c.719-7_719-1del
ENST00000428214.5:c.1900+1339_1900+1345del	ENSP00000394413.1:n.1900+1339_1900+1345del
ENST00000438045.5:c.935-7_935-1del	ENSP00000410438.1:n.935-7_935-1del
ENST00000484913.5:n.1940-7_1940-1del
ENST00000496420.5:n.1577-7_1577-1del
NM_000466.2:c.1901-7_1901-1del	NP_000457.1:n.1901-7_1901-1del
NM_001282677.1:c.1900+1339_1900+1345del	NP_001269606.1:n.1900+1339_1900+1345del
NM_001282678.1:c.1277-7_1277-1del	NP_001269607.1:n.1277-7_1277-1del
XM_005250433.3:c.152-7_152-1del	XP_005250490.1:n.152-7_152-1del
XR_242246.3:n.1997-7_1997-1del
XM_017012319.2:c.152-7_152-1del	XP_016867808.1:n.152-7_152-1del
XR_001744808.2:n.928-7_928-1del
XR_242246.5:n.1948-7_1948-1del
NM_000466.3:c.1901-7_1901-1del MANE Select	NP_000457.1:n.1901-7_1901-1del
NM_001282677.2:c.1900+1339_1900+1345del	NP_001269606.1:n.1900+1339_1900+1345del
NM_001282678.2:c.1277-7_1277-1del	NP_001269607.1:n.1277-7_1277-1del