Canonical Allele Identifier: CA2776946480

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504964_92504976del , CM000669.2:g.92504964_92504976del	GRCh38
NC_000007.13:g.92134278_92134290del , CM000669.1:g.92134278_92134290del	GRCh37
NC_000007.12:g.91972214_91972226del	NCBI36
NG_008341.1:g.28556_28568del
NG_008341.2:g.28556_28568del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1901-74_1901-62del MANE Select	ENSP00000248633.4:n.1901-74_1901-62del
ENST00000248633.8:c.1901-74_1901-62del	ENSP00000248633.4:n.1901-74_1901-62del
ENST00000422866.1:c.719-74_719-62del
ENST00000428214.5:c.1900+1272_1900+1284del	ENSP00000394413.1:n.1900+1272_1900+1284del
ENST00000438045.5:c.935-74_935-62del	ENSP00000410438.1:n.935-74_935-62del
ENST00000484913.5:n.1940-74_1940-62del
ENST00000496420.5:n.1577-74_1577-62del
NM_000466.2:c.1901-74_1901-62del	NP_000457.1:n.1901-74_1901-62del
NM_001282677.1:c.1900+1272_1900+1284del	NP_001269606.1:n.1900+1272_1900+1284del
NM_001282678.1:c.1277-74_1277-62del	NP_001269607.1:n.1277-74_1277-62del
XM_005250433.3:c.152-74_152-62del	XP_005250490.1:n.152-74_152-62del
XR_242246.3:n.1997-74_1997-62del
XM_017012319.2:c.152-74_152-62del	XP_016867808.1:n.152-74_152-62del
XR_001744808.2:n.928-74_928-62del
XR_242246.5:n.1948-74_1948-62del
NM_000466.3:c.1901-74_1901-62del MANE Select	NP_000457.1:n.1901-74_1901-62del
NM_001282677.2:c.1900+1272_1900+1284del	NP_001269606.1:n.1900+1272_1900+1284del
NM_001282678.2:c.1277-74_1277-62del	NP_001269607.1:n.1277-74_1277-62del