Canonical Allele Identifier: CA2776946495

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504969_92504976del , CM000669.2:g.92504969_92504976del	GRCh38
NC_000007.13:g.92134283_92134290del , CM000669.1:g.92134283_92134290del	GRCh37
NC_000007.12:g.91972219_91972226del	NCBI36
NG_008341.1:g.28556_28563del
NG_008341.2:g.28556_28563del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1901-74_1901-67del MANE Select	ENSP00000248633.4:n.1901-74_1901-67del
ENST00000248633.8:c.1901-74_1901-67del	ENSP00000248633.4:n.1901-74_1901-67del
ENST00000422866.1:c.719-74_719-67del
ENST00000428214.5:c.1900+1272_1900+1279del	ENSP00000394413.1:n.1900+1272_1900+1279del
ENST00000438045.5:c.935-74_935-67del	ENSP00000410438.1:n.935-74_935-67del
ENST00000484913.5:n.1940-74_1940-67del
ENST00000496420.5:n.1577-74_1577-67del
NM_000466.2:c.1901-74_1901-67del	NP_000457.1:n.1901-74_1901-67del
NM_001282677.1:c.1900+1272_1900+1279del	NP_001269606.1:n.1900+1272_1900+1279del
NM_001282678.1:c.1277-74_1277-67del	NP_001269607.1:n.1277-74_1277-67del
XM_005250433.3:c.152-74_152-67del	XP_005250490.1:n.152-74_152-67del
XR_242246.3:n.1997-74_1997-67del
XM_017012319.2:c.152-74_152-67del	XP_016867808.1:n.152-74_152-67del
XR_001744808.2:n.928-74_928-67del
XR_242246.5:n.1948-74_1948-67del
NM_000466.3:c.1901-74_1901-67del MANE Select	NP_000457.1:n.1901-74_1901-67del
NM_001282677.2:c.1900+1272_1900+1279del	NP_001269606.1:n.1900+1272_1900+1279del
NM_001282678.2:c.1277-74_1277-67del	NP_001269607.1:n.1277-74_1277-67del