Canonical Allele Identifier: CA2683716614

Gene: PEX1 GATAD1

Linked Data

• gnomAD v4: 7-92489178-TAGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489179_92489181del , CM000669.2:g.92489179_92489181del	GRCh38
NC_000007.13:g.92118493_92118495del , CM000669.1:g.92118493_92118495del	GRCh37
NC_000007.12:g.91956429_91956431del	NCBI36
NG_008341.1:g.44351_44353del
NG_008341.2:g.44351_44353del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3767+112_3767+114del (PEX1) MANE Select	ENSP00000248633.4:n.3767+112_3767+114del
ENST00000248633.8:c.3767+112_3767+114del (PEX1)	ENSP00000248633.4:n.3767+112_3767+114del
ENST00000428214.5:c.3596+112_3596+114del (PEX1)	ENSP00000394413.1:n.3596+112_3596+114del
ENST00000438045.5:c.2801+112_2801+114del (PEX1)	ENSP00000410438.1:n.2801+112_2801+114del
ENST00000477342.1:n.502+112_502+114del (PEX1)
ENST00000484913.5:n.3806+112_3806+114del (PEX1)
ENST00000496420.5:n.4817+112_4817+114del (PEX1)
NM_000466.2:c.3767+112_3767+114del (PEX1)	NP_000457.1:n.3767+112_3767+114del
NM_001282677.1:c.3596+112_3596+114del (PEX1)	NP_001269606.1:n.3596+112_3596+114del
NM_001282678.1:c.3143+112_3143+114del (PEX1)	NP_001269607.1:n.3143+112_3143+114del
XM_005250433.3:c.2018+112_2018+114del (PEX1)	XP_005250490.1:n.2018+112_2018+114del
XR_242246.3:n.3858+112_3858+114del (PEX1)
XR_927494.1:n.1036-2064_1036-2062del (GATAD1)
XR_927495.1:n.1036-907_1036-905del (GATAD1)
XR_927496.1:n.1041-2064_1041-2062del (GATAD1)
XR_927497.1:n.1036-907_1036-905del (GATAD1)
XR_927498.1:n.1124-2064_1124-2062del (GATAD1)
XR_927500.1:n.1033-2064_1033-2062del (GATAD1)
XR_927502.1:n.1033-907_1033-905del (GATAD1)
XR_927503.1:n.967-2064_967-2062del (GATAD1)
XM_017012319.2:c.2018+112_2018+114del (PEX1)	XP_016867808.1:n.2018+112_2018+114del
XR_001744808.2:n.2789+112_2789+114del (PEX1)
XR_001744842.2:n.2281-2064_2281-2062del (GATAD1)
XR_001744843.2:n.2212-2064_2212-2062del (GATAD1)
XR_002956472.1:n.2281-907_2281-905del (GATAD1)
XR_002956473.1:n.2369-2064_2369-2062del (GATAD1)
XR_002956474.1:n.2286-2064_2286-2062del (GATAD1)
XR_242246.5:n.3809+112_3809+114del (PEX1)
XR_927494.3:n.1063-2064_1063-2062del (GATAD1)
XR_927500.3:n.1060-2064_1060-2062del (GATAD1)
XR_927503.3:n.994-2064_994-2062del (GATAD1)
NM_000466.3:c.3767+112_3767+114del (PEX1) MANE Select	NP_000457.1:n.3767+112_3767+114del
NM_001282677.2:c.3596+112_3596+114del (PEX1)	NP_001269606.1:n.3596+112_3596+114del
NM_001282678.2:c.3143+112_3143+114del (PEX1)	NP_001269607.1:n.3143+112_3143+114del