Canonical Allele Identifier: CA1725926315

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs1791121234

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489158_92489159insTTTTT , CM000669.2:g.92489158_92489159insTTTTT	GRCh38
NC_000007.13:g.92118472_92118473insTTTTT , CM000669.1:g.92118472_92118473insTTTTT	GRCh37
NC_000007.12:g.91956408_91956409insTTTTT	NCBI36
NG_008341.1:g.44373_44374insAAAAA
NG_008341.2:g.44373_44374insAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3767+134_3767+135insAAAAA (PEX1) MANE Select	ENSP00000248633.4:n.3767+134_3767+135insAAAAA
ENST00000248633.8:c.3767+134_3767+135insAAAAA (PEX1)	ENSP00000248633.4:n.3767+134_3767+135insAAAAA
ENST00000428214.5:c.3596+134_3596+135insAAAAA (PEX1)	ENSP00000394413.1:n.3596+134_3596+135insAAAAA
ENST00000438045.5:c.2801+134_2801+135insAAAAA (PEX1)	ENSP00000410438.1:n.2801+134_2801+135insAAAAA
ENST00000477342.1:n.502+134_502+135insAAAAA (PEX1)
ENST00000484913.5:n.3806+134_3806+135insAAAAA (PEX1)
ENST00000496420.5:n.4817+134_4817+135insAAAAA (PEX1)
NM_000466.2:c.3767+134_3767+135insAAAAA (PEX1)	NP_000457.1:n.3767+134_3767+135insAAAAA
NM_001282677.1:c.3596+134_3596+135insAAAAA (PEX1)	NP_001269606.1:n.3596+134_3596+135insAAAAA
NM_001282678.1:c.3143+134_3143+135insAAAAA (PEX1)	NP_001269607.1:n.3143+134_3143+135insAAAAA
XM_005250433.3:c.2018+134_2018+135insAAAAA (PEX1)	XP_005250490.1:n.2018+134_2018+135insAAAAA
XR_242246.3:n.3858+134_3858+135insAAAAA (PEX1)
XR_927494.1:n.1036-2085_1036-2084insTTTTT (GATAD1)
XR_927495.1:n.1036-928_1036-927insTTTTT (GATAD1)
XR_927496.1:n.1041-2085_1041-2084insTTTTT (GATAD1)
XR_927497.1:n.1036-928_1036-927insTTTTT (GATAD1)
XR_927498.1:n.1124-2085_1124-2084insTTTTT (GATAD1)
XR_927500.1:n.1033-2085_1033-2084insTTTTT (GATAD1)
XR_927502.1:n.1033-928_1033-927insTTTTT (GATAD1)
XR_927503.1:n.967-2085_967-2084insTTTTT (GATAD1)
XM_017012319.2:c.2018+134_2018+135insAAAAA (PEX1)	XP_016867808.1:n.2018+134_2018+135insAAAAA
XR_001744808.2:n.2789+134_2789+135insAAAAA (PEX1)
XR_001744842.2:n.2281-2085_2281-2084insTTTTT (GATAD1)
XR_001744843.2:n.2212-2085_2212-2084insTTTTT (GATAD1)
XR_002956472.1:n.2281-928_2281-927insTTTTT (GATAD1)
XR_002956473.1:n.2369-2085_2369-2084insTTTTT (GATAD1)
XR_002956474.1:n.2286-2085_2286-2084insTTTTT (GATAD1)
XR_242246.5:n.3809+134_3809+135insAAAAA (PEX1)
XR_927494.3:n.1063-2085_1063-2084insTTTTT (GATAD1)
XR_927500.3:n.1060-2085_1060-2084insTTTTT (GATAD1)
XR_927503.3:n.994-2085_994-2084insTTTTT (GATAD1)
NM_000466.3:c.3767+134_3767+135insAAAAA (PEX1) MANE Select	NP_000457.1:n.3767+134_3767+135insAAAAA
NM_001282677.2:c.3596+134_3596+135insAAAAA (PEX1)	NP_001269606.1:n.3596+134_3596+135insAAAAA
NM_001282678.2:c.3143+134_3143+135insAAAAA (PEX1)	NP_001269607.1:n.3143+134_3143+135insAAAAA