Canonical Allele Identifier: CA2776946508

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504979_92504981del , CM000669.2:g.92504979_92504981del	GRCh38
NC_000007.13:g.92134293_92134295del , CM000669.1:g.92134293_92134295del	GRCh37
NC_000007.12:g.91972229_91972231del	NCBI36
NG_008341.1:g.28551_28553del
NG_008341.2:g.28551_28553del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1901-79_1901-77del MANE Select	ENSP00000248633.4:n.1901-79_1901-77del
ENST00000248633.8:c.1901-79_1901-77del	ENSP00000248633.4:n.1901-79_1901-77del
ENST00000422866.1:c.719-79_719-77del
ENST00000428214.5:c.1900+1267_1900+1269del	ENSP00000394413.1:n.1900+1267_1900+1269del
ENST00000438045.5:c.935-79_935-77del	ENSP00000410438.1:n.935-79_935-77del
ENST00000484913.5:n.1940-79_1940-77del
ENST00000496420.5:n.1577-79_1577-77del
NM_000466.2:c.1901-79_1901-77del	NP_000457.1:n.1901-79_1901-77del
NM_001282677.1:c.1900+1267_1900+1269del	NP_001269606.1:n.1900+1267_1900+1269del
NM_001282678.1:c.1277-79_1277-77del	NP_001269607.1:n.1277-79_1277-77del
XM_005250433.3:c.152-79_152-77del	XP_005250490.1:n.152-79_152-77del
XR_242246.3:n.1997-79_1997-77del
XM_017012319.2:c.152-79_152-77del	XP_016867808.1:n.152-79_152-77del
XR_001744808.2:n.928-79_928-77del
XR_242246.5:n.1948-79_1948-77del
NM_000466.3:c.1901-79_1901-77del MANE Select	NP_000457.1:n.1901-79_1901-77del
NM_001282677.2:c.1900+1267_1900+1269del	NP_001269606.1:n.1900+1267_1900+1269del
NM_001282678.2:c.1277-79_1277-77del	NP_001269607.1:n.1277-79_1277-77del