Canonical Allele Identifier: CA576305534
Gene: PEX1 HGNC NCBI

Linked Data

dbSNP Id: rs1273856339

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92506226_92506227del , CM000669.2:g.92506226_92506227del GRCh38
NC_000007.13:g.92135540_92135541del , CM000669.1:g.92135540_92135541del GRCh37
NC_000007.12:g.91973476_91973477del NCBI36
NG_008341.1:g.27309_27310del
NG_008341.2:g.27309_27310del

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.1900+25_1900+26del MANE Select ENSP00000248633.4:n.1900+25_1900+26del
ENST00000248633.8:c.1900+25_1900+26del ENSP00000248633.4:n.1900+25_1900+26del
ENST00000422866.1:c.718+25_718+26del
ENST00000428214.5:c.1900+25_1900+26del ENSP00000394413.1:n.1900+25_1900+26del
ENST00000438045.5:c.934+25_934+26del ENSP00000410438.1:n.934+25_934+26del
ENST00000484913.5:n.1939+25_1939+26del
ENST00000496420.5:n.1576+25_1576+26del
NM_000466.2:c.1900+25_1900+26del NP_000457.1:n.1900+25_1900+26del
NM_001282677.1:c.1900+25_1900+26del NP_001269606.1:n.1900+25_1900+26del
NM_001282678.1:c.1276+25_1276+26del NP_001269607.1:n.1276+25_1276+26del
XM_005250433.3:c.151+25_151+26del XP_005250490.1:n.151+25_151+26del
XR_242246.3:n.1996+25_1996+26del
XM_017012319.2:c.151+25_151+26del XP_016867808.1:n.151+25_151+26del
XR_001744808.2:n.927+25_927+26del
XR_242246.5:n.1947+25_1947+26del
NM_000466.3:c.1900+25_1900+26del MANE Select NP_000457.1:n.1900+25_1900+26del
NM_001282677.2:c.1900+25_1900+26del NP_001269606.1:n.1900+25_1900+26del
NM_001282678.2:c.1276+25_1276+26del NP_001269607.1:n.1276+25_1276+26del