Canonical Allele Identifier: CA1725926313

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs1791120849

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489160_92489164del , CM000669.2:g.92489160_92489164del	GRCh38
NC_000007.13:g.92118474_92118478del , CM000669.1:g.92118474_92118478del	GRCh37
NC_000007.12:g.91956410_91956414del	NCBI36
NG_008341.1:g.44370_44374del
NG_008341.2:g.44370_44374del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3767+131_3767+135del (PEX1) MANE Select	ENSP00000248633.4:n.3767+131_3767+135del
ENST00000248633.8:c.3767+131_3767+135del (PEX1)	ENSP00000248633.4:n.3767+131_3767+135del
ENST00000428214.5:c.3596+131_3596+135del (PEX1)	ENSP00000394413.1:n.3596+131_3596+135del
ENST00000438045.5:c.2801+131_2801+135del (PEX1)	ENSP00000410438.1:n.2801+131_2801+135del
ENST00000477342.1:n.502+131_502+135del (PEX1)
ENST00000484913.5:n.3806+131_3806+135del (PEX1)
ENST00000496420.5:n.4817+131_4817+135del (PEX1)
NM_000466.2:c.3767+131_3767+135del (PEX1)	NP_000457.1:n.3767+131_3767+135del
NM_001282677.1:c.3596+131_3596+135del (PEX1)	NP_001269606.1:n.3596+131_3596+135del
NM_001282678.1:c.3143+131_3143+135del (PEX1)	NP_001269607.1:n.3143+131_3143+135del
XM_005250433.3:c.2018+131_2018+135del (PEX1)	XP_005250490.1:n.2018+131_2018+135del
XR_242246.3:n.3858+131_3858+135del (PEX1)
XR_927494.1:n.1036-2083_1036-2079del (GATAD1)
XR_927495.1:n.1036-926_1036-922del (GATAD1)
XR_927496.1:n.1041-2083_1041-2079del (GATAD1)
XR_927497.1:n.1036-926_1036-922del (GATAD1)
XR_927498.1:n.1124-2083_1124-2079del (GATAD1)
XR_927500.1:n.1033-2083_1033-2079del (GATAD1)
XR_927502.1:n.1033-926_1033-922del (GATAD1)
XR_927503.1:n.967-2083_967-2079del (GATAD1)
XM_017012319.2:c.2018+131_2018+135del (PEX1)	XP_016867808.1:n.2018+131_2018+135del
XR_001744808.2:n.2789+131_2789+135del (PEX1)
XR_001744842.2:n.2281-2083_2281-2079del (GATAD1)
XR_001744843.2:n.2212-2083_2212-2079del (GATAD1)
XR_002956472.1:n.2281-926_2281-922del (GATAD1)
XR_002956473.1:n.2369-2083_2369-2079del (GATAD1)
XR_002956474.1:n.2286-2083_2286-2079del (GATAD1)
XR_242246.5:n.3809+131_3809+135del (PEX1)
XR_927494.3:n.1063-2083_1063-2079del (GATAD1)
XR_927500.3:n.1060-2083_1060-2079del (GATAD1)
XR_927503.3:n.994-2083_994-2079del (GATAD1)
NM_000466.3:c.3767+131_3767+135del (PEX1) MANE Select	NP_000457.1:n.3767+131_3767+135del
NM_001282677.2:c.3596+131_3596+135del (PEX1)	NP_001269606.1:n.3596+131_3596+135del
NM_001282678.2:c.3143+131_3143+135del (PEX1)	NP_001269607.1:n.3143+131_3143+135del