Canonical Allele Identifier: CA2776946499

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504971_92504973del , CM000669.2:g.92504971_92504973del	GRCh38
NC_000007.13:g.92134285_92134287del , CM000669.1:g.92134285_92134287del	GRCh37
NC_000007.12:g.91972221_91972223del	NCBI36
NG_008341.1:g.28559_28561del
NG_008341.2:g.28559_28561del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1901-71_1901-69del MANE Select	ENSP00000248633.4:n.1901-71_1901-69del
ENST00000248633.8:c.1901-71_1901-69del	ENSP00000248633.4:n.1901-71_1901-69del
ENST00000422866.1:c.719-71_719-69del
ENST00000428214.5:c.1900+1275_1900+1277del	ENSP00000394413.1:n.1900+1275_1900+1277del
ENST00000438045.5:c.935-71_935-69del	ENSP00000410438.1:n.935-71_935-69del
ENST00000484913.5:n.1940-71_1940-69del
ENST00000496420.5:n.1577-71_1577-69del
NM_000466.2:c.1901-71_1901-69del	NP_000457.1:n.1901-71_1901-69del
NM_001282677.1:c.1900+1275_1900+1277del	NP_001269606.1:n.1900+1275_1900+1277del
NM_001282678.1:c.1277-71_1277-69del	NP_001269607.1:n.1277-71_1277-69del
XM_005250433.3:c.152-71_152-69del	XP_005250490.1:n.152-71_152-69del
XR_242246.3:n.1997-71_1997-69del
XM_017012319.2:c.152-71_152-69del	XP_016867808.1:n.152-71_152-69del
XR_001744808.2:n.928-71_928-69del
XR_242246.5:n.1948-71_1948-69del
NM_000466.3:c.1901-71_1901-69del MANE Select	NP_000457.1:n.1901-71_1901-69del
NM_001282677.2:c.1900+1275_1900+1277del	NP_001269606.1:n.1900+1275_1900+1277del
NM_001282678.2:c.1277-71_1277-69del	NP_001269607.1:n.1277-71_1277-69del