Canonical Allele Identifier: CA2683716699

Gene: PEX1 GATAD1

Linked Data

• gnomAD v4: 7-92489467-TAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489475_92489476del , CM000669.2:g.92489475_92489476del	GRCh38
NC_000007.13:g.92118789_92118790del , CM000669.1:g.92118789_92118790del	GRCh37
NC_000007.12:g.91956725_91956726del	NCBI36
NG_008341.1:g.44063_44064del
NG_008341.2:g.44063_44064del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3637-46_3637-45del (PEX1) MANE Select	ENSP00000248633.4:n.3637-46_3637-45del
ENST00000248633.8:c.3637-46_3637-45del (PEX1)	ENSP00000248633.4:n.3637-46_3637-45del
ENST00000428214.5:c.3466-46_3466-45del (PEX1)	ENSP00000394413.1:n.3466-46_3466-45del
ENST00000438045.5:c.2671-46_2671-45del (PEX1)	ENSP00000410438.1:n.2671-46_2671-45del
ENST00000469417.1:n.534-46_534-45del (PEX1)
ENST00000477342.1:n.326_327del (PEX1)
ENST00000484913.5:n.3676-46_3676-45del (PEX1)
ENST00000496420.5:n.4687-46_4687-45del (PEX1)
NM_000466.2:c.3637-46_3637-45del (PEX1)	NP_000457.1:n.3637-46_3637-45del
NM_001282677.1:c.3466-46_3466-45del (PEX1)	NP_001269606.1:n.3466-46_3466-45del
NM_001282678.1:c.3013-46_3013-45del (PEX1)	NP_001269607.1:n.3013-46_3013-45del
XM_005250433.3:c.1888-46_1888-45del (PEX1)	XP_005250490.1:n.1888-46_1888-45del
XR_242246.3:n.3728-46_3728-45del (PEX1)
XR_927494.1:n.1036-1768_1036-1767del (GATAD1)
XR_927495.1:n.1036-611_1036-610del (GATAD1)
XR_927496.1:n.1041-1768_1041-1767del (GATAD1)
XR_927497.1:n.1036-611_1036-610del (GATAD1)
XR_927498.1:n.1124-1768_1124-1767del (GATAD1)
XR_927500.1:n.1033-1768_1033-1767del (GATAD1)
XR_927502.1:n.1033-611_1033-610del (GATAD1)
XR_927503.1:n.967-1768_967-1767del (GATAD1)
XM_017012319.2:c.1888-46_1888-45del (PEX1)	XP_016867808.1:n.1888-46_1888-45del
XR_001744808.2:n.2659-46_2659-45del (PEX1)
XR_001744842.2:n.2281-1768_2281-1767del (GATAD1)
XR_001744843.2:n.2212-1768_2212-1767del (GATAD1)
XR_002956472.1:n.2281-611_2281-610del (GATAD1)
XR_002956473.1:n.2369-1768_2369-1767del (GATAD1)
XR_002956474.1:n.2286-1768_2286-1767del (GATAD1)
XR_242246.5:n.3679-46_3679-45del (PEX1)
XR_927494.3:n.1063-1768_1063-1767del (GATAD1)
XR_927500.3:n.1060-1768_1060-1767del (GATAD1)
XR_927503.3:n.994-1768_994-1767del (GATAD1)
NM_000466.3:c.3637-46_3637-45del (PEX1) MANE Select	NP_000457.1:n.3637-46_3637-45del
NM_001282677.2:c.3466-46_3466-45del (PEX1)	NP_001269606.1:n.3466-46_3466-45del
NM_001282678.2:c.3013-46_3013-45del (PEX1)	NP_001269607.1:n.3013-46_3013-45del