Canonical Allele Identifier: CA843844287

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs1442088585
• MyVariant Identifiers: chr7:g.92118882_92118896del (hg19) ; chr7:g.92489568_92489582del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489570_92489584del , CM000669.2:g.92489570_92489584del	GRCh38
NC_000007.13:g.92118884_92118898del , CM000669.1:g.92118884_92118898del	GRCh37
NC_000007.12:g.91956820_91956834del	NCBI36
NG_008341.1:g.43950_43964del
NG_008341.2:g.43950_43964del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.3636+132_3637-145del (PEX1) MANE Select	ENSP00000248633.4:n.3636+132_3637-145del
ENST00000248633.8:c.3636+132_3637-145del (PEX1)	ENSP00000248633.4:n.3636+132_3637-145del
ENST00000428214.5:c.3465+132_3466-145del (PEX1)	ENSP00000394413.1:n.3465+132_3466-145del
ENST00000438045.5:c.2670+132_2671-145del (PEX1)	ENSP00000410438.1:n.2670+132_2671-145del
ENST00000469417.1:n.533+132_534-145del (PEX1)
ENST00000477342.1:n.213_227del (PEX1)
ENST00000484913.5:n.3675+132_3676-145del (PEX1)
ENST00000496420.5:n.4686+137_4687-145del (PEX1)
NM_000466.2:c.3636+132_3637-145del (PEX1)	NP_000457.1:n.3636+132_3637-145del
NM_001282677.1:c.3465+132_3466-145del (PEX1)	NP_001269606.1:n.3465+132_3466-145del
NM_001282678.1:c.3012+132_3013-145del (PEX1)	NP_001269607.1:n.3012+132_3013-145del
XM_005250433.3:c.1887+132_1888-145del (PEX1)	XP_005250490.1:n.1887+132_1888-145del
XR_242246.3:n.3727+137_3728-145del (PEX1)
XR_927494.1:n.1036-1673_1036-1659del (GATAD1)
XR_927495.1:n.1036-516_1036-502del (GATAD1)
XR_927496.1:n.1041-1673_1041-1659del (GATAD1)
XR_927497.1:n.1036-516_1036-502del (GATAD1)
XR_927498.1:n.1124-1673_1124-1659del (GATAD1)
XR_927500.1:n.1033-1673_1033-1659del (GATAD1)
XR_927502.1:n.1033-516_1033-502del (GATAD1)
XR_927503.1:n.967-1673_967-1659del (GATAD1)
XM_017012319.2:c.1887+132_1888-145del (PEX1)	XP_016867808.1:n.1887+132_1888-145del
XR_001744808.2:n.2658+137_2659-145del (PEX1)
XR_001744842.2:n.2281-1673_2281-1659del (GATAD1)
XR_001744843.2:n.2212-1673_2212-1659del (GATAD1)
XR_002956472.1:n.2281-516_2281-502del (GATAD1)
XR_002956473.1:n.2369-1673_2369-1659del (GATAD1)
XR_002956474.1:n.2286-1673_2286-1659del (GATAD1)
XR_242246.5:n.3678+137_3679-145del (PEX1)
XR_927494.3:n.1063-1673_1063-1659del (GATAD1)
XR_927500.3:n.1060-1673_1060-1659del (GATAD1)
XR_927503.3:n.994-1673_994-1659del (GATAD1)
NM_000466.3:c.3636+132_3637-145del (PEX1) MANE Select	NP_000457.1:n.3636+132_3637-145del
NM_001282677.2:c.3465+132_3466-145del (PEX1)	NP_001269606.1:n.3465+132_3466-145del
NM_001282678.2:c.3012+132_3013-145del (PEX1)	NP_001269607.1:n.3012+132_3013-145del