Canonical Allele Identifier: CA2683716604

Gene: PEX1 GATAD1

Linked Data

• gnomAD v4: 7-92489173-TGAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489174_92489176del , CM000669.2:g.92489174_92489176del	GRCh38
NC_000007.13:g.92118488_92118490del , CM000669.1:g.92118488_92118490del	GRCh37
NC_000007.12:g.91956424_91956426del	NCBI36
NG_008341.1:g.44356_44358del
NG_008341.2:g.44356_44358del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3767+117_3767+119del (PEX1) MANE Select	ENSP00000248633.4:n.3767+117_3767+119del
ENST00000248633.8:c.3767+117_3767+119del (PEX1)	ENSP00000248633.4:n.3767+117_3767+119del
ENST00000428214.5:c.3596+117_3596+119del (PEX1)	ENSP00000394413.1:n.3596+117_3596+119del
ENST00000438045.5:c.2801+117_2801+119del (PEX1)	ENSP00000410438.1:n.2801+117_2801+119del
ENST00000477342.1:n.502+117_502+119del (PEX1)
ENST00000484913.5:n.3806+117_3806+119del (PEX1)
ENST00000496420.5:n.4817+117_4817+119del (PEX1)
NM_000466.2:c.3767+117_3767+119del (PEX1)	NP_000457.1:n.3767+117_3767+119del
NM_001282677.1:c.3596+117_3596+119del (PEX1)	NP_001269606.1:n.3596+117_3596+119del
NM_001282678.1:c.3143+117_3143+119del (PEX1)	NP_001269607.1:n.3143+117_3143+119del
XM_005250433.3:c.2018+117_2018+119del (PEX1)	XP_005250490.1:n.2018+117_2018+119del
XR_242246.3:n.3858+117_3858+119del (PEX1)
XR_927494.1:n.1036-2069_1036-2067del (GATAD1)
XR_927495.1:n.1036-912_1036-910del (GATAD1)
XR_927496.1:n.1041-2069_1041-2067del (GATAD1)
XR_927497.1:n.1036-912_1036-910del (GATAD1)
XR_927498.1:n.1124-2069_1124-2067del (GATAD1)
XR_927500.1:n.1033-2069_1033-2067del (GATAD1)
XR_927502.1:n.1033-912_1033-910del (GATAD1)
XR_927503.1:n.967-2069_967-2067del (GATAD1)
XM_017012319.2:c.2018+117_2018+119del (PEX1)	XP_016867808.1:n.2018+117_2018+119del
XR_001744808.2:n.2789+117_2789+119del (PEX1)
XR_001744842.2:n.2281-2069_2281-2067del (GATAD1)
XR_001744843.2:n.2212-2069_2212-2067del (GATAD1)
XR_002956472.1:n.2281-912_2281-910del (GATAD1)
XR_002956473.1:n.2369-2069_2369-2067del (GATAD1)
XR_002956474.1:n.2286-2069_2286-2067del (GATAD1)
XR_242246.5:n.3809+117_3809+119del (PEX1)
XR_927494.3:n.1063-2069_1063-2067del (GATAD1)
XR_927500.3:n.1060-2069_1060-2067del (GATAD1)
XR_927503.3:n.994-2069_994-2067del (GATAD1)
NM_000466.3:c.3767+117_3767+119del (PEX1) MANE Select	NP_000457.1:n.3767+117_3767+119del
NM_001282677.2:c.3596+117_3596+119del (PEX1)	NP_001269606.1:n.3596+117_3596+119del
NM_001282678.2:c.3143+117_3143+119del (PEX1)	NP_001269607.1:n.3143+117_3143+119del