Canonical Allele Identifier: CA2580078173

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2076821
• ClinVar RCV Id: RCV002972510

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92511020_92511031del , CM000669.2:g.92511020_92511031del	GRCh38
NC_000007.13:g.92140334_92140345del , CM000669.1:g.92140334_92140345del	GRCh37
NC_000007.12:g.91978270_91978281del	NCBI36
NG_008341.1:g.22503_22514del
NG_008341.2:g.22503_22514del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1502_1513del MANE Select	ENSP00000248633.4:p.Leu501_Val504del
ENST00000248633.8:c.1502_1513del	ENSP00000248633.4:p.Leu501_Val504del
ENST00000422866.1:c.403_414del
ENST00000428214.5:c.1502_1513del	ENSP00000394413.1:p.Leu501_Val504del
ENST00000438045.5:c.536_547del	ENSP00000410438.1:p.Leu179_Val182del
ENST00000476923.1:n.263_274del
ENST00000484913.5:n.1541_1552del
NM_000466.2:c.1502_1513del	NP_000457.1:p.Leu501_Val504del
NM_001282677.1:c.1502_1513del	NP_001269606.1:p.Leu501_Val504del
NM_001282678.1:c.878_889del	NP_001269607.1:p.Leu293_Val296del
XM_005250433.3:c.-165_-154del	XP_005250490.1:n.-165_-154del
XR_242246.3:n.1598_1609del
XM_017012319.2:c.-165_-154del	XP_016867808.1:n.-165_-154del
XR_001744808.2:n.612_623del
XR_242246.5:n.1549_1560del
NM_000466.3:c.1502_1513del MANE Select	NP_000457.1:p.Leu501_Val504del
NM_001282677.2:c.1502_1513del	NP_001269606.1:p.Leu501_Val504del
NM_001282678.2:c.878_889del	NP_001269607.1:p.Leu293_Val296del