Canonical Allele Identifier: CA843844147

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs1424700926
• MyVariant Identifiers: chr7:g.92118359_92118363del (hg19) ; chr7:g.92489045_92489049del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489049_92489053del , CM000669.2:g.92489049_92489053del	GRCh38
NC_000007.13:g.92118363_92118367del , CM000669.1:g.92118363_92118367del	GRCh37
NC_000007.12:g.91956299_91956303del	NCBI36
NG_008341.1:g.44483_44487del
NG_008341.2:g.44483_44487del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3767+244_3767+248del (PEX1) MANE Select	ENSP00000248633.4:n.3767+244_3767+248del
ENST00000248633.8:c.3767+244_3767+248del (PEX1)	ENSP00000248633.4:n.3767+244_3767+248del
ENST00000428214.5:c.3596+244_3596+248del (PEX1)	ENSP00000394413.1:n.3596+244_3596+248del
ENST00000438045.5:c.2801+244_2801+248del (PEX1)	ENSP00000410438.1:n.2801+244_2801+248del
ENST00000477342.1:n.502+244_502+248del (PEX1)
ENST00000484913.5:n.3806+244_3806+248del (PEX1)
ENST00000496420.5:n.4817+244_4817+248del (PEX1)
NM_000466.2:c.3767+244_3767+248del (PEX1)	NP_000457.1:n.3767+244_3767+248del
NM_001282677.1:c.3596+244_3596+248del (PEX1)	NP_001269606.1:n.3596+244_3596+248del
NM_001282678.1:c.3143+244_3143+248del (PEX1)	NP_001269607.1:n.3143+244_3143+248del
XM_005250433.3:c.2018+244_2018+248del (PEX1)	XP_005250490.1:n.2018+244_2018+248del
XR_242246.3:n.3858+244_3858+248del (PEX1)
XR_927494.1:n.1036-2194_1036-2190del (GATAD1)
XR_927495.1:n.1036-1037_1036-1033del (GATAD1)
XR_927496.1:n.1041-2194_1041-2190del (GATAD1)
XR_927497.1:n.1036-1037_1036-1033del (GATAD1)
XR_927498.1:n.1124-2194_1124-2190del (GATAD1)
XR_927500.1:n.1033-2194_1033-2190del (GATAD1)
XR_927502.1:n.1033-1037_1033-1033del (GATAD1)
XR_927503.1:n.967-2194_967-2190del (GATAD1)
XM_017012319.2:c.2018+244_2018+248del (PEX1)	XP_016867808.1:n.2018+244_2018+248del
XR_001744808.2:n.2789+244_2789+248del (PEX1)
XR_001744842.2:n.2281-2194_2281-2190del (GATAD1)
XR_001744843.2:n.2212-2194_2212-2190del (GATAD1)
XR_002956472.1:n.2281-1037_2281-1033del (GATAD1)
XR_002956473.1:n.2369-2194_2369-2190del (GATAD1)
XR_002956474.1:n.2286-2194_2286-2190del (GATAD1)
XR_242246.5:n.3809+244_3809+248del (PEX1)
XR_927494.3:n.1063-2194_1063-2190del (GATAD1)
XR_927500.3:n.1060-2194_1060-2190del (GATAD1)
XR_927503.3:n.994-2194_994-2190del (GATAD1)
NM_000466.3:c.3767+244_3767+248del (PEX1) MANE Select	NP_000457.1:n.3767+244_3767+248del
NM_001282677.2:c.3596+244_3596+248del (PEX1)	NP_001269606.1:n.3596+244_3596+248del
NM_001282678.2:c.3143+244_3143+248del (PEX1)	NP_001269607.1:n.3143+244_3143+248del