Canonical Allele Identifier: CA2499219041

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 1068038
• ClinVar RCV Id: RCV001379471
• dbSNP Id: rs2116039871
• gnomAD v4: 7-92489423-CCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489424_92489426del , CM000669.2:g.92489424_92489426del	GRCh38
NC_000007.13:g.92118738_92118740del , CM000669.1:g.92118738_92118740del	GRCh37
NC_000007.12:g.91956674_91956676del	NCBI36
NG_008341.1:g.44106_44108del
NG_008341.2:g.44106_44108del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3637-3_3637-1del (PEX1) MANE Select	ENSP00000248633.4:n.3637-3_3637-1del
ENST00000248633.8:c.3637-3_3637-1del (PEX1)	ENSP00000248633.4:n.3637-3_3637-1del
ENST00000428214.5:c.3466-3_3466-1del (PEX1)	ENSP00000394413.1:n.3466-3_3466-1del
ENST00000438045.5:c.2671-3_2671-1del (PEX1)	ENSP00000410438.1:n.2671-3_2671-1del
ENST00000469417.1:n.534-3_534-1del (PEX1)
ENST00000477342.1:n.369_371del (PEX1)
ENST00000484913.5:n.3676-3_3676-1del (PEX1)
ENST00000496420.5:n.4687-3_4687-1del (PEX1)
NM_000466.2:c.3637-3_3637-1del (PEX1)	NP_000457.1:n.3637-3_3637-1del
NM_001282677.1:c.3466-3_3466-1del (PEX1)	NP_001269606.1:n.3466-3_3466-1del
NM_001282678.1:c.3013-3_3013-1del (PEX1)	NP_001269607.1:n.3013-3_3013-1del
XM_005250433.3:c.1888-3_1888-1del (PEX1)	XP_005250490.1:n.1888-3_1888-1del
XR_242246.3:n.3728-3_3728-1del (PEX1)
XR_927494.1:n.1036-1819_1036-1817del (GATAD1)
XR_927495.1:n.1036-662_1036-660del (GATAD1)
XR_927496.1:n.1041-1819_1041-1817del (GATAD1)
XR_927497.1:n.1036-662_1036-660del (GATAD1)
XR_927498.1:n.1124-1819_1124-1817del (GATAD1)
XR_927500.1:n.1033-1819_1033-1817del (GATAD1)
XR_927502.1:n.1033-662_1033-660del (GATAD1)
XR_927503.1:n.967-1819_967-1817del (GATAD1)
XM_017012319.2:c.1888-3_1888-1del (PEX1)	XP_016867808.1:n.1888-3_1888-1del
XR_001744808.2:n.2659-3_2659-1del (PEX1)
XR_001744842.2:n.2281-1819_2281-1817del (GATAD1)
XR_001744843.2:n.2212-1819_2212-1817del (GATAD1)
XR_002956472.1:n.2281-662_2281-660del (GATAD1)
XR_002956473.1:n.2369-1819_2369-1817del (GATAD1)
XR_002956474.1:n.2286-1819_2286-1817del (GATAD1)
XR_242246.5:n.3679-3_3679-1del (PEX1)
XR_927494.3:n.1063-1819_1063-1817del (GATAD1)
XR_927500.3:n.1060-1819_1060-1817del (GATAD1)
XR_927503.3:n.994-1819_994-1817del (GATAD1)
NM_000466.3:c.3637-3_3637-1del (PEX1) MANE Select	NP_000457.1:n.3637-3_3637-1del
NM_001282677.2:c.3466-3_3466-1del (PEX1)	NP_001269606.1:n.3466-3_3466-1del
NM_001282678.2:c.3013-3_3013-1del (PEX1)	NP_001269607.1:n.3013-3_3013-1del