Canonical Allele Identifier: CA843844162

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs1479636291
• gnomAD v4: 7-92489197-ATATTTT-A
• MyVariant Identifiers: chr7:g.92118512_92118517del (hg19) ; chr7:g.92489198_92489203del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489204_92489209del , CM000669.2:g.92489204_92489209del	GRCh38
NC_000007.13:g.92118518_92118523del , CM000669.1:g.92118518_92118523del	GRCh37
NC_000007.12:g.91956454_91956459del	NCBI36
NG_008341.1:g.44329_44334del
NG_008341.2:g.44329_44334del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3767+90_3767+95del (PEX1) MANE Select	ENSP00000248633.4:n.3767+90_3767+95del
ENST00000248633.8:c.3767+90_3767+95del (PEX1)	ENSP00000248633.4:n.3767+90_3767+95del
ENST00000428214.5:c.3596+90_3596+95del (PEX1)	ENSP00000394413.1:n.3596+90_3596+95del
ENST00000438045.5:c.2801+90_2801+95del (PEX1)	ENSP00000410438.1:n.2801+90_2801+95del
ENST00000477342.1:n.502+90_502+95del (PEX1)
ENST00000484913.5:n.3806+90_3806+95del (PEX1)
ENST00000496420.5:n.4817+90_4817+95del (PEX1)
NM_000466.2:c.3767+90_3767+95del (PEX1)	NP_000457.1:n.3767+90_3767+95del
NM_001282677.1:c.3596+90_3596+95del (PEX1)	NP_001269606.1:n.3596+90_3596+95del
NM_001282678.1:c.3143+90_3143+95del (PEX1)	NP_001269607.1:n.3143+90_3143+95del
XM_005250433.3:c.2018+90_2018+95del (PEX1)	XP_005250490.1:n.2018+90_2018+95del
XR_242246.3:n.3858+90_3858+95del (PEX1)
XR_927494.1:n.1036-2039_1036-2034del (GATAD1)
XR_927495.1:n.1036-882_1036-877del (GATAD1)
XR_927496.1:n.1041-2039_1041-2034del (GATAD1)
XR_927497.1:n.1036-882_1036-877del (GATAD1)
XR_927498.1:n.1124-2039_1124-2034del (GATAD1)
XR_927500.1:n.1033-2039_1033-2034del (GATAD1)
XR_927502.1:n.1033-882_1033-877del (GATAD1)
XR_927503.1:n.967-2039_967-2034del (GATAD1)
XM_017012319.2:c.2018+90_2018+95del (PEX1)	XP_016867808.1:n.2018+90_2018+95del
XR_001744808.2:n.2789+90_2789+95del (PEX1)
XR_001744842.2:n.2281-2039_2281-2034del (GATAD1)
XR_001744843.2:n.2212-2039_2212-2034del (GATAD1)
XR_002956472.1:n.2281-882_2281-877del (GATAD1)
XR_002956473.1:n.2369-2039_2369-2034del (GATAD1)
XR_002956474.1:n.2286-2039_2286-2034del (GATAD1)
XR_242246.5:n.3809+90_3809+95del (PEX1)
XR_927494.3:n.1063-2039_1063-2034del (GATAD1)
XR_927500.3:n.1060-2039_1060-2034del (GATAD1)
XR_927503.3:n.994-2039_994-2034del (GATAD1)
NM_000466.3:c.3767+90_3767+95del (PEX1) MANE Select	NP_000457.1:n.3767+90_3767+95del
NM_001282677.2:c.3596+90_3596+95del (PEX1)	NP_001269606.1:n.3596+90_3596+95del
NM_001282678.2:c.3143+90_3143+95del (PEX1)	NP_001269607.1:n.3143+90_3143+95del