Canonical Allele Identifier: CA2683720747

Gene: PEX1

Linked Data

• gnomAD v4: 7-92518257-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518258del , CM000669.2:g.92518258del	GRCh38
NC_000007.13:g.92147572del , CM000669.1:g.92147572del	GRCh37
NC_000007.12:g.91985508del	NCBI36
NG_008341.1:g.15274del
NG_008341.2:g.15274del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.358-3del MANE Select	ENSP00000248633.4:n.358-3del
ENST00000248633.8:c.358-3del	ENSP00000248633.4:n.358-3del
ENST00000428214.5:c.358-3del	ENSP00000394413.1:n.358-3del
ENST00000438045.5:c.273+3844del	ENSP00000410438.1:n.273+3844del
ENST00000484913.5:n.397-3del
NM_000466.2:c.358-3del	NP_000457.1:n.358-3del
NM_001282677.1:c.358-3del	NP_001269606.1:n.358-3del
NM_001282678.1:c.-267-3del	NP_001269607.1:n.-267-3del
XR_242246.3:n.454-3del
XR_242246.5:n.405-3del
NM_000466.3:c.358-3del MANE Select	NP_000457.1:n.358-3del
NM_001282677.2:c.358-3del	NP_001269606.1:n.358-3del
NM_001282678.2:c.-267-3del	NP_001269607.1:n.-267-3del