Canonical Allele Identifier: CA2601656071
Gene: PEX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92496547_92496548insAAATGTTATTTAATATCTAAAATTTAATATCTAAAA , CM000669.2:g.92496547_92496548insAAATGTTATTTAATATCTAAAATTTAATATCTAAAA GRCh38
NC_000007.13:g.92125861_92125862insAAATGTTATTTAATATCTAAAATTTAATATCTAAAA , CM000669.1:g.92125861_92125862insAAATGTTATTTAATATCTAAAATTTAATATCTAAAA GRCh37
NC_000007.12:g.91963797_91963798insAAATGTTATTTAATATCTAAAATTTAATATCTAAAA NCBI36
NG_008341.1:g.36984_36985insTTTTAGATATTAAATTTTAGATATTAAATAACATTT
NG_008341.2:g.36984_36985insTTTTAGATATTAAATTTTAGATATTAAATAACATTT

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2783+165_2783+166insTTTTAGATATTAAATTTTAGATATTAAATAACATTT MANE Select ENSP00000248633.4:n.2783+165_2783+166insTTTTAGATATTAAATTTTAGA...
ENST00000248633.8:c.2783+165_2783+166insTTTTAGATATTAAATTTTAGATATTAAATAACATTT ENSP00000248633.4:n.2783+165_2783+166insTTTTAGATATTAAATTTTAGA...
ENST00000428214.5:c.2612+165_2612+166insTTTTAGATATTAAATTTTAGATATTAAATAACATTT ENSP00000394413.1:n.2612+165_2612+166insTTTTAGATATTAAATTTTAGA...
ENST00000438045.5:c.1817+165_1817+166insTTTTAGATATTAAATTTTAGATATTAAATAACATTT ENSP00000410438.1:n.1817+165_1817+166insTTTTAGATATTAAATTTTAGA...
ENST00000484913.5:n.2822+165_2822+166insTTTTAGATATTAAATTTTAGATATTAAATAACATTT
ENST00000496420.5:n.2675+165_2675+166insTTTTAGATATTAAATTTTAGATATTAAATAACATTT
NM_000466.2:c.2783+165_2783+166insTTTTAGATATTAAATTTTAGATATTAAATAACATTT NP_000457.1:n.2783+165_2783+166insTTTTAGATATTAAATTTTAGATATTAA...
NM_001282677.1:c.2612+165_2612+166insTTTTAGATATTAAATTTTAGATATTAAATAACATTT NP_001269606.1:n.2612+165_2612+166insTTTTAGATATTAAATTTTAGATAT...
NM_001282678.1:c.2159+165_2159+166insTTTTAGATATTAAATTTTAGATATTAAATAACATTT NP_001269607.1:n.2159+165_2159+166insTTTTAGATATTAAATTTTAGATAT...
XM_005250433.3:c.1034+165_1034+166insTTTTAGATATTAAATTTTAGATATTAAATAACATTT XP_005250490.1:n.1034+165_1034+166insTTTTAGATATTAAATTTTAGATAT...
XR_242246.3:n.2879+165_2879+166insTTTTAGATATTAAATTTTAGATATTAAATAACATTT
XM_017012319.2:c.1034+165_1034+166insTTTTAGATATTAAATTTTAGATATTAAATAACATTT XP_016867808.1:n.1034+165_1034+166insTTTTAGATATTAAATTTTAGATAT...
XR_001744808.2:n.1810+165_1810+166insTTTTAGATATTAAATTTTAGATATTAAATAACATTT
XR_242246.5:n.2830+165_2830+166insTTTTAGATATTAAATTTTAGATATTAAATAACATTT
NM_000466.3:c.2783+165_2783+166insTTTTAGATATTAAATTTTAGATATTAAATAACATTT MANE Select NP_000457.1:n.2783+165_2783+166insTTTTAGATATTAAATTTTAGATATTAA...
NM_001282677.2:c.2612+165_2612+166insTTTTAGATATTAAATTTTAGATATTAAATAACATTT NP_001269606.1:n.2612+165_2612+166insTTTTAGATATTAAATTTTAGATAT...
NM_001282678.2:c.2159+165_2159+166insTTTTAGATATTAAATTTTAGATATTAAATAACATTT NP_001269607.1:n.2159+165_2159+166insTTTTAGATATTAAATTTTAGATAT...