Canonical Allele Identifier: CA2683716725

Gene: PEX1 GATAD1

Linked Data

• gnomAD v4: 7-92489522-ACCAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489523_92489526del , CM000669.2:g.92489523_92489526del	GRCh38
NC_000007.13:g.92118837_92118840del , CM000669.1:g.92118837_92118840del	GRCh37
NC_000007.12:g.91956773_91956776del	NCBI36
NG_008341.1:g.44006_44009del
NG_008341.2:g.44006_44009del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.3637-103_3637-100del (PEX1) MANE Select	ENSP00000248633.4:n.3637-103_3637-100del
ENST00000248633.8:c.3637-103_3637-100del (PEX1)	ENSP00000248633.4:n.3637-103_3637-100del
ENST00000428214.5:c.3466-103_3466-100del (PEX1)	ENSP00000394413.1:n.3466-103_3466-100del
ENST00000438045.5:c.2671-103_2671-100del (PEX1)	ENSP00000410438.1:n.2671-103_2671-100del
ENST00000469417.1:n.534-103_534-100del (PEX1)
ENST00000477342.1:n.269_272del (PEX1)
ENST00000484913.5:n.3676-103_3676-100del (PEX1)
ENST00000496420.5:n.4687-103_4687-100del (PEX1)
NM_000466.2:c.3637-103_3637-100del (PEX1)	NP_000457.1:n.3637-103_3637-100del
NM_001282677.1:c.3466-103_3466-100del (PEX1)	NP_001269606.1:n.3466-103_3466-100del
NM_001282678.1:c.3013-103_3013-100del (PEX1)	NP_001269607.1:n.3013-103_3013-100del
XM_005250433.3:c.1888-103_1888-100del (PEX1)	XP_005250490.1:n.1888-103_1888-100del
XR_242246.3:n.3728-103_3728-100del (PEX1)
XR_927494.1:n.1036-1720_1036-1717del (GATAD1)
XR_927495.1:n.1036-563_1036-560del (GATAD1)
XR_927496.1:n.1041-1720_1041-1717del (GATAD1)
XR_927497.1:n.1036-563_1036-560del (GATAD1)
XR_927498.1:n.1124-1720_1124-1717del (GATAD1)
XR_927500.1:n.1033-1720_1033-1717del (GATAD1)
XR_927502.1:n.1033-563_1033-560del (GATAD1)
XR_927503.1:n.967-1720_967-1717del (GATAD1)
XM_017012319.2:c.1888-103_1888-100del (PEX1)	XP_016867808.1:n.1888-103_1888-100del
XR_001744808.2:n.2659-103_2659-100del (PEX1)
XR_001744842.2:n.2281-1720_2281-1717del (GATAD1)
XR_001744843.2:n.2212-1720_2212-1717del (GATAD1)
XR_002956472.1:n.2281-563_2281-560del (GATAD1)
XR_002956473.1:n.2369-1720_2369-1717del (GATAD1)
XR_002956474.1:n.2286-1720_2286-1717del (GATAD1)
XR_242246.5:n.3679-103_3679-100del (PEX1)
XR_927494.3:n.1063-1720_1063-1717del (GATAD1)
XR_927500.3:n.1060-1720_1060-1717del (GATAD1)
XR_927503.3:n.994-1720_994-1717del (GATAD1)
NM_000466.3:c.3637-103_3637-100del (PEX1) MANE Select	NP_000457.1:n.3637-103_3637-100del
NM_001282677.2:c.3466-103_3466-100del (PEX1)	NP_001269606.1:n.3466-103_3466-100del
NM_001282678.2:c.3013-103_3013-100del (PEX1)	NP_001269607.1:n.3013-103_3013-100del