Canonical Allele Identifier: CA1725926277

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489109_92489111delinsATT , CM000669.2:g.92489109_92489111delinsATT	GRCh38
NC_000007.13:g.92118423_92118425delinsATT , CM000669.1:g.92118423_92118425delinsATT	GRCh37
NC_000007.12:g.91956359_91956361delinsATT	NCBI36
NG_008341.1:g.44421_44423delinsAAT
NG_008341.2:g.44421_44423delinsAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3767+182_3767+184delinsAAT (PEX1) MANE Select	ENSP00000248633.4:n.3767+182_3767+184delinsAAT
ENST00000248633.8:c.3767+182_3767+184delinsAAT (PEX1)	ENSP00000248633.4:n.3767+182_3767+184delinsAAT
ENST00000428214.5:c.3596+182_3596+184delinsAAT (PEX1)	ENSP00000394413.1:n.3596+182_3596+184delinsAAT
ENST00000438045.5:c.2801+182_2801+184delinsAAT (PEX1)	ENSP00000410438.1:n.2801+182_2801+184delinsAAT
ENST00000477342.1:n.502+182_502+184delinsAAT (PEX1)
ENST00000484913.5:n.3806+182_3806+184delinsAAT (PEX1)
ENST00000496420.5:n.4817+182_4817+184delinsAAT (PEX1)
NM_000466.2:c.3767+182_3767+184delinsAAT (PEX1)	NP_000457.1:n.3767+182_3767+184delinsAAT
NM_001282677.1:c.3596+182_3596+184delinsAAT (PEX1)	NP_001269606.1:n.3596+182_3596+184delinsAAT
NM_001282678.1:c.3143+182_3143+184delinsAAT (PEX1)	NP_001269607.1:n.3143+182_3143+184delinsAAT
XM_005250433.3:c.2018+182_2018+184delinsAAT (PEX1)	XP_005250490.1:n.2018+182_2018+184delinsAAT
XR_242246.3:n.3858+182_3858+184delinsAAT (PEX1)
XR_927494.1:n.1036-2134_1036-2132delinsATT (GATAD1)
XR_927495.1:n.1036-977_1036-975delinsATT (GATAD1)
XR_927496.1:n.1041-2134_1041-2132delinsATT (GATAD1)
XR_927497.1:n.1036-977_1036-975delinsATT (GATAD1)
XR_927498.1:n.1124-2134_1124-2132delinsATT (GATAD1)
XR_927500.1:n.1033-2134_1033-2132delinsATT (GATAD1)
XR_927502.1:n.1033-977_1033-975delinsATT (GATAD1)
XR_927503.1:n.967-2134_967-2132delinsATT (GATAD1)
XM_017012319.2:c.2018+182_2018+184delinsAAT (PEX1)	XP_016867808.1:n.2018+182_2018+184delinsAAT
XR_001744808.2:n.2789+182_2789+184delinsAAT (PEX1)
XR_001744842.2:n.2281-2134_2281-2132delinsATT (GATAD1)
XR_001744843.2:n.2212-2134_2212-2132delinsATT (GATAD1)
XR_002956472.1:n.2281-977_2281-975delinsATT (GATAD1)
XR_002956473.1:n.2369-2134_2369-2132delinsATT (GATAD1)
XR_002956474.1:n.2286-2134_2286-2132delinsATT (GATAD1)
XR_242246.5:n.3809+182_3809+184delinsAAT (PEX1)
XR_927494.3:n.1063-2134_1063-2132delinsATT (GATAD1)
XR_927500.3:n.1060-2134_1060-2132delinsATT (GATAD1)
XR_927503.3:n.994-2134_994-2132delinsATT (GATAD1)
NM_000466.3:c.3767+182_3767+184delinsAAT (PEX1) MANE Select	NP_000457.1:n.3767+182_3767+184delinsAAT
NM_001282677.2:c.3596+182_3596+184delinsAAT (PEX1)	NP_001269606.1:n.3596+182_3596+184delinsAAT
NM_001282678.2:c.3143+182_3143+184delinsAAT (PEX1)	NP_001269607.1:n.3143+182_3143+184delinsAAT