Canonical Allele Identifier: CA843844155

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs1350111758
• gnomAD v3: 7-92489109-ATT-A
• gnomAD v4: 7-92489109-ATT-A
• MyVariant Identifiers: chr7:g.92118424_92118425del (hg19) ; chr7:g.92489110_92489111del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489112_92489113del , CM000669.2:g.92489112_92489113del	GRCh38
NC_000007.13:g.92118426_92118427del , CM000669.1:g.92118426_92118427del	GRCh37
NC_000007.12:g.91956362_91956363del	NCBI36
NG_008341.1:g.44421_44422del
NG_008341.2:g.44421_44422del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3767+182_3767+183del (PEX1) MANE Select	ENSP00000248633.4:n.3767+182_3767+183del
ENST00000248633.8:c.3767+182_3767+183del (PEX1)	ENSP00000248633.4:n.3767+182_3767+183del
ENST00000428214.5:c.3596+182_3596+183del (PEX1)	ENSP00000394413.1:n.3596+182_3596+183del
ENST00000438045.5:c.2801+182_2801+183del (PEX1)	ENSP00000410438.1:n.2801+182_2801+183del
ENST00000477342.1:n.502+182_502+183del (PEX1)
ENST00000484913.5:n.3806+182_3806+183del (PEX1)
ENST00000496420.5:n.4817+182_4817+183del (PEX1)
NM_000466.2:c.3767+182_3767+183del (PEX1)	NP_000457.1:n.3767+182_3767+183del
NM_001282677.1:c.3596+182_3596+183del (PEX1)	NP_001269606.1:n.3596+182_3596+183del
NM_001282678.1:c.3143+182_3143+183del (PEX1)	NP_001269607.1:n.3143+182_3143+183del
XM_005250433.3:c.2018+182_2018+183del (PEX1)	XP_005250490.1:n.2018+182_2018+183del
XR_242246.3:n.3858+182_3858+183del (PEX1)
XR_927494.1:n.1036-2131_1036-2130del (GATAD1)
XR_927495.1:n.1036-974_1036-973del (GATAD1)
XR_927496.1:n.1041-2131_1041-2130del (GATAD1)
XR_927497.1:n.1036-974_1036-973del (GATAD1)
XR_927498.1:n.1124-2131_1124-2130del (GATAD1)
XR_927500.1:n.1033-2131_1033-2130del (GATAD1)
XR_927502.1:n.1033-974_1033-973del (GATAD1)
XR_927503.1:n.967-2131_967-2130del (GATAD1)
XM_017012319.2:c.2018+182_2018+183del (PEX1)	XP_016867808.1:n.2018+182_2018+183del
XR_001744808.2:n.2789+182_2789+183del (PEX1)
XR_001744842.2:n.2281-2131_2281-2130del (GATAD1)
XR_001744843.2:n.2212-2131_2212-2130del (GATAD1)
XR_002956472.1:n.2281-974_2281-973del (GATAD1)
XR_002956473.1:n.2369-2131_2369-2130del (GATAD1)
XR_002956474.1:n.2286-2131_2286-2130del (GATAD1)
XR_242246.5:n.3809+182_3809+183del (PEX1)
XR_927494.3:n.1063-2131_1063-2130del (GATAD1)
XR_927500.3:n.1060-2131_1060-2130del (GATAD1)
XR_927503.3:n.994-2131_994-2130del (GATAD1)
NM_000466.3:c.3767+182_3767+183del (PEX1) MANE Select	NP_000457.1:n.3767+182_3767+183del
NM_001282677.2:c.3596+182_3596+183del (PEX1)	NP_001269606.1:n.3596+182_3596+183del
NM_001282678.2:c.3143+182_3143+183del (PEX1)	NP_001269607.1:n.3143+182_3143+183del