Canonical Allele Identifier: CA2776946513

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504981_92504986del , CM000669.2:g.92504981_92504986del	GRCh38
NC_000007.13:g.92134295_92134300del , CM000669.1:g.92134295_92134300del	GRCh37
NC_000007.12:g.91972231_91972236del	NCBI36
NG_008341.1:g.28546_28551del
NG_008341.2:g.28546_28551del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1901-84_1901-79del MANE Select	ENSP00000248633.4:n.1901-84_1901-79del
ENST00000248633.8:c.1901-84_1901-79del	ENSP00000248633.4:n.1901-84_1901-79del
ENST00000422866.1:c.719-84_719-79del
ENST00000428214.5:c.1900+1262_1900+1267del	ENSP00000394413.1:n.1900+1262_1900+1267del
ENST00000438045.5:c.935-84_935-79del	ENSP00000410438.1:n.935-84_935-79del
ENST00000484913.5:n.1940-84_1940-79del
ENST00000496420.5:n.1577-84_1577-79del
NM_000466.2:c.1901-84_1901-79del	NP_000457.1:n.1901-84_1901-79del
NM_001282677.1:c.1900+1262_1900+1267del	NP_001269606.1:n.1900+1262_1900+1267del
NM_001282678.1:c.1277-84_1277-79del	NP_001269607.1:n.1277-84_1277-79del
XM_005250433.3:c.152-84_152-79del	XP_005250490.1:n.152-84_152-79del
XR_242246.3:n.1997-84_1997-79del
XM_017012319.2:c.152-84_152-79del	XP_016867808.1:n.152-84_152-79del
XR_001744808.2:n.928-84_928-79del
XR_242246.5:n.1948-84_1948-79del
NM_000466.3:c.1901-84_1901-79del MANE Select	NP_000457.1:n.1901-84_1901-79del
NM_001282677.2:c.1900+1262_1900+1267del	NP_001269606.1:n.1900+1262_1900+1267del
NM_001282678.2:c.1277-84_1277-79del	NP_001269607.1:n.1277-84_1277-79del