Canonical Allele Identifier: CA1725926246

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489062_92489065delinsTATG , CM000669.2:g.92489062_92489065delinsTATG	GRCh38
NC_000007.13:g.92118376_92118379delinsTATG , CM000669.1:g.92118376_92118379delinsTATG	GRCh37
NC_000007.12:g.91956312_91956315delinsTATG	NCBI36
NG_008341.1:g.44467_44470delinsCATA
NG_008341.2:g.44467_44470delinsCATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3767+228_3767+231delinsCATA (PEX1) MANE Select	ENSP00000248633.4:n.3767+228_3767+231delinsCATA
ENST00000248633.8:c.3767+228_3767+231delinsCATA (PEX1)	ENSP00000248633.4:n.3767+228_3767+231delinsCATA
ENST00000428214.5:c.3596+228_3596+231delinsCATA (PEX1)	ENSP00000394413.1:n.3596+228_3596+231delinsCATA
ENST00000438045.5:c.2801+228_2801+231delinsCATA (PEX1)	ENSP00000410438.1:n.2801+228_2801+231delinsCATA
ENST00000477342.1:n.502+228_502+231delinsCATA (PEX1)
ENST00000484913.5:n.3806+228_3806+231delinsCATA (PEX1)
ENST00000496420.5:n.4817+228_4817+231delinsCATA (PEX1)
NM_000466.2:c.3767+228_3767+231delinsCATA (PEX1)	NP_000457.1:n.3767+228_3767+231delinsCATA
NM_001282677.1:c.3596+228_3596+231delinsCATA (PEX1)	NP_001269606.1:n.3596+228_3596+231delinsCATA
NM_001282678.1:c.3143+228_3143+231delinsCATA (PEX1)	NP_001269607.1:n.3143+228_3143+231delinsCATA
XM_005250433.3:c.2018+228_2018+231delinsCATA (PEX1)	XP_005250490.1:n.2018+228_2018+231delinsCATA
XR_242246.3:n.3858+228_3858+231delinsCATA (PEX1)
XR_927494.1:n.1036-2181_1036-2178delinsTATG (GATAD1)
XR_927495.1:n.1036-1024_1036-1021delinsTATG (GATAD1)
XR_927496.1:n.1041-2181_1041-2178delinsTATG (GATAD1)
XR_927497.1:n.1036-1024_1036-1021delinsTATG (GATAD1)
XR_927498.1:n.1124-2181_1124-2178delinsTATG (GATAD1)
XR_927500.1:n.1033-2181_1033-2178delinsTATG (GATAD1)
XR_927502.1:n.1033-1024_1033-1021delinsTATG (GATAD1)
XR_927503.1:n.967-2181_967-2178delinsTATG (GATAD1)
XM_017012319.2:c.2018+228_2018+231delinsCATA (PEX1)	XP_016867808.1:n.2018+228_2018+231delinsCATA
XR_001744808.2:n.2789+228_2789+231delinsCATA (PEX1)
XR_001744842.2:n.2281-2181_2281-2178delinsTATG (GATAD1)
XR_001744843.2:n.2212-2181_2212-2178delinsTATG (GATAD1)
XR_002956472.1:n.2281-1024_2281-1021delinsTATG (GATAD1)
XR_002956473.1:n.2369-2181_2369-2178delinsTATG (GATAD1)
XR_002956474.1:n.2286-2181_2286-2178delinsTATG (GATAD1)
XR_242246.5:n.3809+228_3809+231delinsCATA (PEX1)
XR_927494.3:n.1063-2181_1063-2178delinsTATG (GATAD1)
XR_927500.3:n.1060-2181_1060-2178delinsTATG (GATAD1)
XR_927503.3:n.994-2181_994-2178delinsTATG (GATAD1)
NM_000466.3:c.3767+228_3767+231delinsCATA (PEX1) MANE Select	NP_000457.1:n.3767+228_3767+231delinsCATA
NM_001282677.2:c.3596+228_3596+231delinsCATA (PEX1)	NP_001269606.1:n.3596+228_3596+231delinsCATA
NM_001282678.2:c.3143+228_3143+231delinsCATA (PEX1)	NP_001269607.1:n.3143+228_3143+231delinsCATA