Canonical Allele Identifier: CA2683720490

Gene: PEX1

Linked Data

• gnomAD v4: 7-92510950-TGTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92510953_92510955del , CM000669.2:g.92510953_92510955del	GRCh38
NC_000007.13:g.92140267_92140269del , CM000669.1:g.92140267_92140269del	GRCh37
NC_000007.12:g.91978203_91978205del	NCBI36
NG_008341.1:g.22579_22581del
NG_008341.2:g.22579_22581del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1578_1580del MANE Select	ENSP00000248633.4:p.Thr527del
ENST00000248633.8:c.1578_1580del	ENSP00000248633.4:p.Thr527del
ENST00000422866.1:c.479_481del
ENST00000428214.5:c.1578_1580del	ENSP00000394413.1:p.Thr527del
ENST00000438045.5:c.612_614del	ENSP00000410438.1:p.Thr205del
ENST00000476923.1:n.339_341del
ENST00000484913.5:n.1617_1619del
NM_000466.2:c.1578_1580del	NP_000457.1:p.Thr527del
NM_001282677.1:c.1578_1580del	NP_001269606.1:p.Thr527del
NM_001282678.1:c.954_956del	NP_001269607.1:p.Thr319del
XM_005250433.3:c.-89_-87del	XP_005250490.1:n.-89_-87del
XR_242246.3:n.1674_1676del
XM_017012319.2:c.-89_-87del	XP_016867808.1:n.-89_-87del
XR_001744808.2:n.688_690del
XR_242246.5:n.1625_1627del
NM_000466.3:c.1578_1580del MANE Select	NP_000457.1:p.Thr527del
NM_001282677.2:c.1578_1580del	NP_001269606.1:p.Thr527del
NM_001282678.2:c.954_956del	NP_001269607.1:p.Thr319del