Canonical Allele Identifier: CA1725938564

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504624_92504629delinsTTAACA , CM000669.2:g.92504624_92504629delinsTTAACA	GRCh38
NC_000007.13:g.92133938_92133943delinsTTAACA , CM000669.1:g.92133938_92133943delinsTTAACA	GRCh37
NC_000007.12:g.91971874_91971879delinsTTAACA	NCBI36
NG_008341.1:g.28903_28908delinsTGTTAA
NG_008341.2:g.28903_28908delinsTGTTAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2071+103_2071+108delinsTGTTAA MANE Select	ENSP00000248633.4:n.2071+103_2071+108deli...
ENST00000248633.8:c.2071+103_2071+108delinsTGTTAA	ENSP00000248633.4:n.2071+103_2071+108deli...
ENST00000428214.5:c.1901-1434_1901-1429delinsTGTTAA	ENSP00000394413.1:n.1901-1434_1901-1429de...
ENST00000438045.5:c.1105+103_1105+108delinsTGTTAA	ENSP00000410438.1:n.1105+103_1105+108deli...
ENST00000484913.5:n.2110+103_2110+108delinsTGTTAA
ENST00000496420.5:n.1747+103_1747+108delinsTGTTAA
NM_000466.2:c.2071+103_2071+108delinsTGTTAA	NP_000457.1:n.2071+103_2071+108delinsTGTT...
NM_001282677.1:c.1901-1434_1901-1429delinsTGTTAA	NP_001269606.1:n.1901-1434_1901-1429delin...
NM_001282678.1:c.1447+103_1447+108delinsTGTTAA	NP_001269607.1:n.1447+103_1447+108delinsT...
XM_005250433.3:c.322+103_322+108delinsTGTTAA	XP_005250490.1:n.322+103_322+108delinsTGT...
XR_242246.3:n.2167+103_2167+108delinsTGTTAA
XM_017012319.2:c.322+103_322+108delinsTGTTAA	XP_016867808.1:n.322+103_322+108delinsTGT...
XR_001744808.2:n.1098+103_1098+108delinsTGTTAA
XR_242246.5:n.2118+103_2118+108delinsTGTTAA
NM_000466.3:c.2071+103_2071+108delinsTGTTAA MANE Select	NP_000457.1:n.2071+103_2071+108delinsTGTT...
NM_001282677.2:c.1901-1434_1901-1429delinsTGTTAA	NP_001269606.1:n.1901-1434_1901-1429delin...
NM_001282678.2:c.1447+103_1447+108delinsTGTTAA	NP_001269607.1:n.1447+103_1447+108delinsT...