Canonical Allele Identifier: CA2776945315

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489128_92489270del , CM000669.2:g.92489128_92489270del	GRCh38
NC_000007.13:g.92118442_92118584del , CM000669.1:g.92118442_92118584del	GRCh37
NC_000007.12:g.91956378_91956520del	NCBI36
NG_008341.1:g.44271_44413del
NG_008341.2:g.44271_44413del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3767+32_3767+174del (PEX1) MANE Select	ENSP00000248633.4:n.3767+32_3767+174del
ENST00000248633.8:c.3767+32_3767+174del (PEX1)	ENSP00000248633.4:n.3767+32_3767+174del
ENST00000428214.5:c.3596+32_3596+174del (PEX1)	ENSP00000394413.1:n.3596+32_3596+174del
ENST00000438045.5:c.2801+32_2801+174del (PEX1)	ENSP00000410438.1:n.2801+32_2801+174del
ENST00000477342.1:n.502+32_502+174del (PEX1)
ENST00000484913.5:n.3806+32_3806+174del (PEX1)
ENST00000496420.5:n.4817+32_4817+174del (PEX1)
NM_000466.2:c.3767+32_3767+174del (PEX1)	NP_000457.1:n.3767+32_3767+174del
NM_001282677.1:c.3596+32_3596+174del (PEX1)	NP_001269606.1:n.3596+32_3596+174del
NM_001282678.1:c.3143+32_3143+174del (PEX1)	NP_001269607.1:n.3143+32_3143+174del
XM_005250433.3:c.2018+32_2018+174del (PEX1)	XP_005250490.1:n.2018+32_2018+174del
XR_242246.3:n.3858+32_3858+174del (PEX1)
XR_927494.1:n.1036-2115_1036-1973del (GATAD1)
XR_927495.1:n.1036-958_1036-816del (GATAD1)
XR_927496.1:n.1041-2115_1041-1973del (GATAD1)
XR_927497.1:n.1036-958_1036-816del (GATAD1)
XR_927498.1:n.1124-2115_1124-1973del (GATAD1)
XR_927500.1:n.1033-2115_1033-1973del (GATAD1)
XR_927502.1:n.1033-958_1033-816del (GATAD1)
XR_927503.1:n.967-2115_967-1973del (GATAD1)
XM_017012319.2:c.2018+32_2018+174del (PEX1)	XP_016867808.1:n.2018+32_2018+174del
XR_001744808.2:n.2789+32_2789+174del (PEX1)
XR_001744842.2:n.2281-2115_2281-1973del (GATAD1)
XR_001744843.2:n.2212-2115_2212-1973del (GATAD1)
XR_002956472.1:n.2281-958_2281-816del (GATAD1)
XR_002956473.1:n.2369-2115_2369-1973del (GATAD1)
XR_002956474.1:n.2286-2115_2286-1973del (GATAD1)
XR_242246.5:n.3809+32_3809+174del (PEX1)
XR_927494.3:n.1063-2115_1063-1973del (GATAD1)
XR_927500.3:n.1060-2115_1060-1973del (GATAD1)
XR_927503.3:n.994-2115_994-1973del (GATAD1)
NM_000466.3:c.3767+32_3767+174del (PEX1) MANE Select	NP_000457.1:n.3767+32_3767+174del
NM_001282677.2:c.3596+32_3596+174del (PEX1)	NP_001269606.1:n.3596+32_3596+174del
NM_001282678.2:c.3143+32_3143+174del (PEX1)	NP_001269607.1:n.3143+32_3143+174del