Canonical Allele Identifier: CA2683720740

Gene: PEX1

Linked Data

• gnomAD v4: 7-92518220-TAGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518224_92518226del , CM000669.2:g.92518224_92518226del	GRCh38
NC_000007.13:g.92147538_92147540del , CM000669.1:g.92147538_92147540del	GRCh37
NC_000007.12:g.91985474_91985476del	NCBI36
NG_008341.1:g.15309_15311del
NG_008341.2:g.15309_15311del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.390_392del MANE Select	ENSP00000248633.4:p.Leu131del
ENST00000248633.8:c.390_392del	ENSP00000248633.4:p.Leu131del
ENST00000428214.5:c.390_392del	ENSP00000394413.1:p.Leu131del
ENST00000438045.5:c.273+3879_273+3881del	ENSP00000410438.1:n.273+3879_273+3881del
ENST00000484913.5:n.429_431del
NM_000466.2:c.390_392del	NP_000457.1:p.Leu131del
NM_001282677.1:c.390_392del	NP_001269606.1:p.Leu131del
NM_001282678.1:c.-235_-233del	NP_001269607.1:n.-235_-233del
XR_242246.3:n.486_488del
XR_242246.5:n.437_439del
NM_000466.3:c.390_392del MANE Select	NP_000457.1:p.Leu131del
NM_001282677.2:c.390_392del	NP_001269606.1:p.Leu131del
NM_001282678.2:c.-235_-233del	NP_001269607.1:n.-235_-233del