Canonical Allele Identifier: CA2776945316

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489164_92489165del , CM000669.2:g.92489164_92489165del	GRCh38
NC_000007.13:g.92118478_92118479del , CM000669.1:g.92118478_92118479del	GRCh37
NC_000007.12:g.91956414_91956415del	NCBI36
NG_008341.1:g.44370_44371del
NG_008341.2:g.44370_44371del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3767+131_3767+132del (PEX1) MANE Select	ENSP00000248633.4:n.3767+131_3767+132del
ENST00000248633.8:c.3767+131_3767+132del (PEX1)	ENSP00000248633.4:n.3767+131_3767+132del
ENST00000428214.5:c.3596+131_3596+132del (PEX1)	ENSP00000394413.1:n.3596+131_3596+132del
ENST00000438045.5:c.2801+131_2801+132del (PEX1)	ENSP00000410438.1:n.2801+131_2801+132del
ENST00000477342.1:n.502+131_502+132del (PEX1)
ENST00000484913.5:n.3806+131_3806+132del (PEX1)
ENST00000496420.5:n.4817+131_4817+132del (PEX1)
NM_000466.2:c.3767+131_3767+132del (PEX1)	NP_000457.1:n.3767+131_3767+132del
NM_001282677.1:c.3596+131_3596+132del (PEX1)	NP_001269606.1:n.3596+131_3596+132del
NM_001282678.1:c.3143+131_3143+132del (PEX1)	NP_001269607.1:n.3143+131_3143+132del
XM_005250433.3:c.2018+131_2018+132del (PEX1)	XP_005250490.1:n.2018+131_2018+132del
XR_242246.3:n.3858+131_3858+132del (PEX1)
XR_927494.1:n.1036-2079_1036-2078del (GATAD1)
XR_927495.1:n.1036-922_1036-921del (GATAD1)
XR_927496.1:n.1041-2079_1041-2078del (GATAD1)
XR_927497.1:n.1036-922_1036-921del (GATAD1)
XR_927498.1:n.1124-2079_1124-2078del (GATAD1)
XR_927500.1:n.1033-2079_1033-2078del (GATAD1)
XR_927502.1:n.1033-922_1033-921del (GATAD1)
XR_927503.1:n.967-2079_967-2078del (GATAD1)
XM_017012319.2:c.2018+131_2018+132del (PEX1)	XP_016867808.1:n.2018+131_2018+132del
XR_001744808.2:n.2789+131_2789+132del (PEX1)
XR_001744842.2:n.2281-2079_2281-2078del (GATAD1)
XR_001744843.2:n.2212-2079_2212-2078del (GATAD1)
XR_002956472.1:n.2281-922_2281-921del (GATAD1)
XR_002956473.1:n.2369-2079_2369-2078del (GATAD1)
XR_002956474.1:n.2286-2079_2286-2078del (GATAD1)
XR_242246.5:n.3809+131_3809+132del (PEX1)
XR_927494.3:n.1063-2079_1063-2078del (GATAD1)
XR_927500.3:n.1060-2079_1060-2078del (GATAD1)
XR_927503.3:n.994-2079_994-2078del (GATAD1)
NM_000466.3:c.3767+131_3767+132del (PEX1) MANE Select	NP_000457.1:n.3767+131_3767+132del
NM_001282677.2:c.3596+131_3596+132del (PEX1)	NP_001269606.1:n.3596+131_3596+132del
NM_001282678.2:c.3143+131_3143+132del (PEX1)	NP_001269607.1:n.3143+131_3143+132del