Canonical Allele Identifier: CA2695199559

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2677622
• ClinVar RCV Id: RCV003476756

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92507012_92507013del , CM000669.2:g.92507012_92507013del	GRCh38
NC_000007.13:g.92136326_92136327del , CM000669.1:g.92136326_92136327del	GRCh37
NC_000007.12:g.91974262_91974263del	NCBI36
NG_008341.1:g.26521_26522del
NG_008341.2:g.26521_26522del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1786_1787del MANE Select	ENSP00000248633.4:p.Leu596ThrfsTer18
ENST00000248633.8:c.1786_1787del	ENSP00000248633.4:p.Leu596ThrfsTer18
ENST00000422866.1:c.604_605del
ENST00000428214.5:c.1786_1787del	ENSP00000394413.1:p.Leu596ThrfsTer18
ENST00000438045.5:c.820_821del	ENSP00000410438.1:p.Leu274ThrfsTer18
ENST00000484913.5:n.1825_1826del
ENST00000496420.5:n.813_814del
NM_000466.2:c.1786_1787del	NP_000457.1:p.Leu596ThrfsTer18
NM_001282677.1:c.1786_1787del	NP_001269606.1:p.Leu596ThrfsTer18
NM_001282678.1:c.1162_1163del	NP_001269607.1:p.Leu388ThrfsTer18
XM_005250433.3:c.37_38del	XP_005250490.1:p.Leu13ThrfsTer18
XR_242246.3:n.1882_1883del
XM_017012319.2:c.37_38del	XP_016867808.1:p.Leu13ThrfsTer18
XR_001744808.2:n.813_814del
XR_242246.5:n.1833_1834del
NM_000466.3:c.1786_1787del MANE Select	NP_000457.1:p.Leu596ThrfsTer18
NM_001282677.2:c.1786_1787del	NP_001269606.1:p.Leu596ThrfsTer18
NM_001282678.2:c.1162_1163del	NP_001269607.1:p.Leu388ThrfsTer18