Canonical Allele Identifier: CA1104477069

Gene: PEX1

Linked Data

• dbSNP Id: rs1782545398
• gnomAD v3: 7-92518198-GAAA-G
• gnomAD v4: 7-92518198-GAAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518201_92518203del , CM000669.2:g.92518201_92518203del	GRCh38
NC_000007.13:g.92147515_92147517del , CM000669.1:g.92147515_92147517del	GRCh37
NC_000007.12:g.91985451_91985453del	NCBI36
NG_008341.1:g.15331_15333del
NG_008341.2:g.15331_15333del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.412_414del MANE Select	ENSP00000248633.4:p.Phe138del
ENST00000248633.8:c.412_414del	ENSP00000248633.4:p.Phe138del
ENST00000428214.5:c.412_414del	ENSP00000394413.1:p.Phe138del
ENST00000438045.5:c.273+3901_273+3903del	ENSP00000410438.1:n.273+3901_273+3903del
ENST00000484913.5:n.451_453del
NM_000466.2:c.412_414del	NP_000457.1:p.Phe138del
NM_001282677.1:c.412_414del	NP_001269606.1:p.Phe138del
NM_001282678.1:c.-213_-211del	NP_001269607.1:n.-213_-211del
XR_242246.3:n.508_510del
XR_242246.5:n.459_461del
NM_000466.3:c.412_414del MANE Select	NP_000457.1:p.Phe138del
NM_001282677.2:c.412_414del	NP_001269606.1:p.Phe138del
NM_001282678.2:c.-213_-211del	NP_001269607.1:n.-213_-211del