Canonical Allele Identifier: CA1725926247

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs1791112934

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489064_92489066del , CM000669.2:g.92489064_92489066del	GRCh38
NC_000007.13:g.92118378_92118380del , CM000669.1:g.92118378_92118380del	GRCh37
NC_000007.12:g.91956314_91956316del	NCBI36
NG_008341.1:g.44467_44469del
NG_008341.2:g.44467_44469del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3767+228_3767+230del (PEX1) MANE Select	ENSP00000248633.4:n.3767+228_3767+230del
ENST00000248633.8:c.3767+228_3767+230del (PEX1)	ENSP00000248633.4:n.3767+228_3767+230del
ENST00000428214.5:c.3596+228_3596+230del (PEX1)	ENSP00000394413.1:n.3596+228_3596+230del
ENST00000438045.5:c.2801+228_2801+230del (PEX1)	ENSP00000410438.1:n.2801+228_2801+230del
ENST00000477342.1:n.502+228_502+230del (PEX1)
ENST00000484913.5:n.3806+228_3806+230del (PEX1)
ENST00000496420.5:n.4817+228_4817+230del (PEX1)
NM_000466.2:c.3767+228_3767+230del (PEX1)	NP_000457.1:n.3767+228_3767+230del
NM_001282677.1:c.3596+228_3596+230del (PEX1)	NP_001269606.1:n.3596+228_3596+230del
NM_001282678.1:c.3143+228_3143+230del (PEX1)	NP_001269607.1:n.3143+228_3143+230del
XM_005250433.3:c.2018+228_2018+230del (PEX1)	XP_005250490.1:n.2018+228_2018+230del
XR_242246.3:n.3858+228_3858+230del (PEX1)
XR_927494.1:n.1036-2179_1036-2177del (GATAD1)
XR_927495.1:n.1036-1022_1036-1020del (GATAD1)
XR_927496.1:n.1041-2179_1041-2177del (GATAD1)
XR_927497.1:n.1036-1022_1036-1020del (GATAD1)
XR_927498.1:n.1124-2179_1124-2177del (GATAD1)
XR_927500.1:n.1033-2179_1033-2177del (GATAD1)
XR_927502.1:n.1033-1022_1033-1020del (GATAD1)
XR_927503.1:n.967-2179_967-2177del (GATAD1)
XM_017012319.2:c.2018+228_2018+230del (PEX1)	XP_016867808.1:n.2018+228_2018+230del
XR_001744808.2:n.2789+228_2789+230del (PEX1)
XR_001744842.2:n.2281-2179_2281-2177del (GATAD1)
XR_001744843.2:n.2212-2179_2212-2177del (GATAD1)
XR_002956472.1:n.2281-1022_2281-1020del (GATAD1)
XR_002956473.1:n.2369-2179_2369-2177del (GATAD1)
XR_002956474.1:n.2286-2179_2286-2177del (GATAD1)
XR_242246.5:n.3809+228_3809+230del (PEX1)
XR_927494.3:n.1063-2179_1063-2177del (GATAD1)
XR_927500.3:n.1060-2179_1060-2177del (GATAD1)
XR_927503.3:n.994-2179_994-2177del (GATAD1)
NM_000466.3:c.3767+228_3767+230del (PEX1) MANE Select	NP_000457.1:n.3767+228_3767+230del
NM_001282677.2:c.3596+228_3596+230del (PEX1)	NP_001269606.1:n.3596+228_3596+230del
NM_001282678.2:c.3143+228_3143+230del (PEX1)	NP_001269607.1:n.3143+228_3143+230del