Canonical Allele Identifier: CA2580077854

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1977820
• ClinVar RCV Id: RCV002774900

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92519052_92519054del , CM000669.2:g.92519052_92519054del	GRCh38
NC_000007.13:g.92148366_92148368del , CM000669.1:g.92148366_92148368del	GRCh37
NC_000007.12:g.91986302_91986304del	NCBI36
NG_008341.1:g.14480_14482del
NG_008341.2:g.14480_14482del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.300_302del MANE Select	ENSP00000248633.4:p.Val101del
ENST00000248633.8:c.300_302del	ENSP00000248633.4:p.Val101del
ENST00000428214.5:c.300_302del	ENSP00000394413.1:p.Val101del
ENST00000438045.5:c.273+3050_273+3052del	ENSP00000410438.1:n.273+3050_273+3052del
ENST00000484913.5:n.304_306del
NM_000466.2:c.300_302del	NP_000457.1:p.Val101del
NM_001282677.1:c.300_302del	NP_001269606.1:p.Val101del
NM_001282678.1:c.-360_-358del	NP_001269607.1:n.-360_-358del
XR_242246.3:n.396_398del
XR_242246.5:n.347_349del
NM_000466.3:c.300_302del MANE Select	NP_000457.1:p.Val101del
NM_001282677.2:c.300_302del	NP_001269606.1:p.Val101del
NM_001282678.2:c.-360_-358del	NP_001269607.1:n.-360_-358del