Canonical Allele Identifier: CA2580077847

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1725049
• ClinVar RCV Id: RCV002308108

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517982_92517983del , CM000669.2:g.92517982_92517983del	GRCh38
NC_000007.13:g.92147296_92147297del , CM000669.1:g.92147296_92147297del	GRCh37
NC_000007.12:g.91985232_91985233del	NCBI36
NG_008341.1:g.15549_15550del
NG_008341.2:g.15549_15550del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.532_533del MANE Select	ENSP00000248633.4:p.Gln178AlafsTer15
ENST00000248633.8:c.532_533del	ENSP00000248633.4:p.Gln178AlafsTer15
ENST00000428214.5:c.532_533del	ENSP00000394413.1:p.Gln178AlafsTer15
ENST00000438045.5:c.274-4016_274-4015del	ENSP00000410438.1:n.274-4016_274-4015del
ENST00000484913.5:n.571_572del
NM_000466.2:c.532_533del	NP_000457.1:p.Gln178AlafsTer15
NM_001282677.1:c.532_533del	NP_001269606.1:p.Gln178AlafsTer15
NM_001282678.1:c.-93_-92del	NP_001269607.1:n.-93_-92del
XR_242246.3:n.628_629del
XR_242246.5:n.579_580del
NM_000466.3:c.532_533del MANE Select	NP_000457.1:p.Gln178AlafsTer15
NM_001282677.2:c.532_533del	NP_001269606.1:p.Gln178AlafsTer15
NM_001282678.2:c.-93_-92del	NP_001269607.1:n.-93_-92del