Canonical Allele Identifier: CA2683721221

Gene: PEX1

Linked Data

• gnomAD v4: 7-92521965-CCTAGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92521970_92521974del , CM000669.2:g.92521970_92521974del	GRCh38
NC_000007.13:g.92151284_92151288del , CM000669.1:g.92151284_92151288del	GRCh37
NC_000007.12:g.91989220_91989224del	NCBI36
NG_008341.1:g.11562_11566del
NG_008341.2:g.11562_11566del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.273+132_273+136del MANE Select	ENSP00000248633.4:n.273+132_273+136del
ENST00000248633.8:c.273+132_273+136del	ENSP00000248633.4:n.273+132_273+136del
ENST00000428214.5:c.273+132_273+136del	ENSP00000394413.1:n.273+132_273+136del
ENST00000438045.5:c.273+132_273+136del	ENSP00000410438.1:n.273+132_273+136del
ENST00000484913.5:n.277+132_277+136del
NM_000466.2:c.273+132_273+136del	NP_000457.1:n.273+132_273+136del
NM_001282677.1:c.273+132_273+136del	NP_001269606.1:n.273+132_273+136del
NM_001282678.1:c.-387+132_-387+136del	NP_001269607.1:n.-387+132_-387+136del
XR_242246.3:n.369+132_369+136del
XR_242246.5:n.320+132_320+136del
NM_000466.3:c.273+132_273+136del MANE Select	NP_000457.1:n.273+132_273+136del
NM_001282677.2:c.273+132_273+136del	NP_001269606.1:n.273+132_273+136del
NM_001282678.2:c.-387+132_-387+136del	NP_001269607.1:n.-387+132_-387+136del