Canonical Allele Identifier: CA2776946512

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504981_92504984del , CM000669.2:g.92504981_92504984del	GRCh38
NC_000007.13:g.92134295_92134298del , CM000669.1:g.92134295_92134298del	GRCh37
NC_000007.12:g.91972231_91972234del	NCBI36
NG_008341.1:g.28549_28552del
NG_008341.2:g.28549_28552del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1901-81_1901-78del MANE Select	ENSP00000248633.4:n.1901-81_1901-78del
ENST00000248633.8:c.1901-81_1901-78del	ENSP00000248633.4:n.1901-81_1901-78del
ENST00000422866.1:c.719-81_719-78del
ENST00000428214.5:c.1900+1265_1900+1268del	ENSP00000394413.1:n.1900+1265_1900+1268del
ENST00000438045.5:c.935-81_935-78del	ENSP00000410438.1:n.935-81_935-78del
ENST00000484913.5:n.1940-81_1940-78del
ENST00000496420.5:n.1577-81_1577-78del
NM_000466.2:c.1901-81_1901-78del	NP_000457.1:n.1901-81_1901-78del
NM_001282677.1:c.1900+1265_1900+1268del	NP_001269606.1:n.1900+1265_1900+1268del
NM_001282678.1:c.1277-81_1277-78del	NP_001269607.1:n.1277-81_1277-78del
XM_005250433.3:c.152-81_152-78del	XP_005250490.1:n.152-81_152-78del
XR_242246.3:n.1997-81_1997-78del
XM_017012319.2:c.152-81_152-78del	XP_016867808.1:n.152-81_152-78del
XR_001744808.2:n.928-81_928-78del
XR_242246.5:n.1948-81_1948-78del
NM_000466.3:c.1901-81_1901-78del MANE Select	NP_000457.1:n.1901-81_1901-78del
NM_001282677.2:c.1900+1265_1900+1268del	NP_001269606.1:n.1900+1265_1900+1268del
NM_001282678.2:c.1277-81_1277-78del	NP_001269607.1:n.1277-81_1277-78del