Canonical Allele Identifier: CA576305548

Gene: PEX1

Linked Data

• ClinVar Variation Id: 554241
• ClinVar RCV Id: RCV000669833 ; RCV001008714 ; RCV001277055
• dbSNP Id: rs1398892633
• gnomAD v2: 7-92135574-TAC-T
• gnomAD v3: 7-92506260-TAC-T
• gnomAD v4: 7-92506260-TAC-T
• MyVariant Identifiers: chr7:g.92135575_92135576del (hg19) ; chr7:g.92506261_92506262del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506262_92506263del , CM000669.2:g.92506262_92506263del	GRCh38
NC_000007.13:g.92135576_92135577del , CM000669.1:g.92135576_92135577del	GRCh37
NC_000007.12:g.91973512_91973513del	NCBI36
NG_008341.1:g.27270_27271del
NG_008341.2:g.27270_27271del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1886_1887del MANE Select	ENSP00000248633.4:p.Cys629Ter
ENST00000248633.8:c.1886_1887del	ENSP00000248633.4:p.Cys629Ter
ENST00000422866.1:c.704_705del
ENST00000428214.5:c.1886_1887del	ENSP00000394413.1:p.Cys629Ter
ENST00000438045.5:c.920_921del	ENSP00000410438.1:p.Cys307Ter
ENST00000484913.5:n.1925_1926del
ENST00000496420.5:n.1562_1563del
NM_000466.2:c.1886_1887del	NP_000457.1:p.Cys629Ter
NM_001282677.1:c.1886_1887del	NP_001269606.1:p.Cys629Ter
NM_001282678.1:c.1262_1263del	NP_001269607.1:p.Cys421Ter
XM_005250433.3:c.137_138del	XP_005250490.1:p.Cys46Ter
XR_242246.3:n.1982_1983del
XM_017012319.2:c.137_138del	XP_016867808.1:p.Cys46Ter
XR_001744808.2:n.913_914del
XR_242246.5:n.1933_1934del
NM_000466.3:c.1886_1887del MANE Select	NP_000457.1:p.Cys629Ter
NM_001282677.2:c.1886_1887del	NP_001269606.1:p.Cys629Ter
NM_001282678.2:c.1262_1263del	NP_001269607.1:p.Cys421Ter