Canonical Allele Identifier: CA843856788

Gene: PEX1

Linked Data

• dbSNP Id: rs1230438218
• gnomAD v3: 7-92517381-ATCT-A
• gnomAD v4: 7-92517381-ATCT-A
• MyVariant Identifiers: chr7:g.92146696_92146698del (hg19) ; chr7:g.92517382_92517384del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517387_92517389del , CM000669.2:g.92517387_92517389del	GRCh38
NC_000007.13:g.92146701_92146703del , CM000669.1:g.92146701_92146703del	GRCh37
NC_000007.12:g.91984637_91984639del	NCBI36
NG_008341.1:g.16148_16150del
NG_008341.2:g.16148_16150del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1131_1133del MANE Select	ENSP00000248633.4:p.Glu377del
ENST00000248633.8:c.1131_1133del	ENSP00000248633.4:p.Glu377del
ENST00000422866.1:c.32_34del
ENST00000428214.5:c.1131_1133del	ENSP00000394413.1:p.Glu377del
ENST00000438045.5:c.274-3417_274-3415del	ENSP00000410438.1:n.274-3417_274-3415del
ENST00000484913.5:n.1170_1172del
NM_000466.2:c.1131_1133del	NP_000457.1:p.Glu377del
NM_001282677.1:c.1131_1133del	NP_001269606.1:p.Glu377del
NM_001282678.1:c.507_509del	NP_001269607.1:p.Glu169del
XR_242246.3:n.1227_1229del
XM_017012319.2:c.-536_-534del	XP_016867808.1:n.-536_-534del
XR_001744808.2:n.241_243del
XR_242246.5:n.1178_1180del
NM_000466.3:c.1131_1133del MANE Select	NP_000457.1:p.Glu377del
NM_001282677.2:c.1131_1133del	NP_001269606.1:p.Glu377del
NM_001282678.2:c.507_509del	NP_001269607.1:p.Glu169del