Canonical Allele Identifier: CA16041154
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 371742
ClinVar RCV Id: RCV000410634 RCV000411755
dbSNP Id: rs1057517499
MyVariant Identifiers: chr7:g.92132415_92132419del (hg19) chr7:g.92503101_92503105del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92503104_92503108del , CM000669.2:g.92503104_92503108del GRCh38
NC_000007.13:g.92132418_92132422del , CM000669.1:g.92132418_92132422del GRCh37
NC_000007.12:g.91970354_91970358del NCBI36
NG_008341.1:g.30427_30431del
NG_008341.2:g.30427_30431del

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2162_2166del MANE Select ENSP00000248633.4:p.Leu721CysfsTer19
ENST00000248633.8:c.2162_2166del ENSP00000248633.4:p.Leu721CysfsTer19
ENST00000428214.5:c.1991_1995del ENSP00000394413.1:p.Leu664CysfsTer19
ENST00000438045.5:c.1196_1200del ENSP00000410438.1:p.Leu399CysfsTer19
ENST00000484913.5:n.2201_2205del
ENST00000496420.5:n.1838_1842del
NM_000466.2:c.2162_2166del NP_000457.1:p.Leu721CysfsTer19
NM_001282677.1:c.1991_1995del NP_001269606.1:p.Leu664CysfsTer19
NM_001282678.1:c.1538_1542del NP_001269607.1:p.Leu513CysfsTer19
XM_005250433.3:c.413_417del XP_005250490.1:p.Leu138CysfsTer19
XR_242246.3:n.2258_2262del
XM_017012319.2:c.413_417del XP_016867808.1:p.Leu138CysfsTer19
XR_001744808.2:n.1189_1193del
XR_242246.5:n.2209_2213del
NM_000466.3:c.2162_2166del MANE Select NP_000457.1:p.Leu721CysfsTer19
NM_001282677.2:c.1991_1995del NP_001269606.1:p.Leu664CysfsTer19
NM_001282678.2:c.1538_1542del NP_001269607.1:p.Leu513CysfsTer19
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