Canonical Allele Identifier: CA843844160

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs1405151853
• gnomAD v4: 7-92489164-CAT-C
• MyVariant Identifiers: chr7:g.92118479_92118480del (hg19) ; chr7:g.92489165_92489166del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489167_92489168del , CM000669.2:g.92489167_92489168del	GRCh38
NC_000007.13:g.92118481_92118482del , CM000669.1:g.92118481_92118482del	GRCh37
NC_000007.12:g.91956417_91956418del	NCBI36
NG_008341.1:g.44366_44367del
NG_008341.2:g.44366_44367del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3767+127_3767+128del (PEX1) MANE Select	ENSP00000248633.4:n.3767+127_3767+128del
ENST00000248633.8:c.3767+127_3767+128del (PEX1)	ENSP00000248633.4:n.3767+127_3767+128del
ENST00000428214.5:c.3596+127_3596+128del (PEX1)	ENSP00000394413.1:n.3596+127_3596+128del
ENST00000438045.5:c.2801+127_2801+128del (PEX1)	ENSP00000410438.1:n.2801+127_2801+128del
ENST00000477342.1:n.502+127_502+128del (PEX1)
ENST00000484913.5:n.3806+127_3806+128del (PEX1)
ENST00000496420.5:n.4817+127_4817+128del (PEX1)
NM_000466.2:c.3767+127_3767+128del (PEX1)	NP_000457.1:n.3767+127_3767+128del
NM_001282677.1:c.3596+127_3596+128del (PEX1)	NP_001269606.1:n.3596+127_3596+128del
NM_001282678.1:c.3143+127_3143+128del (PEX1)	NP_001269607.1:n.3143+127_3143+128del
XM_005250433.3:c.2018+127_2018+128del (PEX1)	XP_005250490.1:n.2018+127_2018+128del
XR_242246.3:n.3858+127_3858+128del (PEX1)
XR_927494.1:n.1036-2076_1036-2075del (GATAD1)
XR_927495.1:n.1036-919_1036-918del (GATAD1)
XR_927496.1:n.1041-2076_1041-2075del (GATAD1)
XR_927497.1:n.1036-919_1036-918del (GATAD1)
XR_927498.1:n.1124-2076_1124-2075del (GATAD1)
XR_927500.1:n.1033-2076_1033-2075del (GATAD1)
XR_927502.1:n.1033-919_1033-918del (GATAD1)
XR_927503.1:n.967-2076_967-2075del (GATAD1)
XM_017012319.2:c.2018+127_2018+128del (PEX1)	XP_016867808.1:n.2018+127_2018+128del
XR_001744808.2:n.2789+127_2789+128del (PEX1)
XR_001744842.2:n.2281-2076_2281-2075del (GATAD1)
XR_001744843.2:n.2212-2076_2212-2075del (GATAD1)
XR_002956472.1:n.2281-919_2281-918del (GATAD1)
XR_002956473.1:n.2369-2076_2369-2075del (GATAD1)
XR_002956474.1:n.2286-2076_2286-2075del (GATAD1)
XR_242246.5:n.3809+127_3809+128del (PEX1)
XR_927494.3:n.1063-2076_1063-2075del (GATAD1)
XR_927500.3:n.1060-2076_1060-2075del (GATAD1)
XR_927503.3:n.994-2076_994-2075del (GATAD1)
NM_000466.3:c.3767+127_3767+128del (PEX1) MANE Select	NP_000457.1:n.3767+127_3767+128del
NM_001282677.2:c.3596+127_3596+128del (PEX1)	NP_001269606.1:n.3596+127_3596+128del
NM_001282678.2:c.3143+127_3143+128del (PEX1)	NP_001269607.1:n.3143+127_3143+128del