Canonical Allele Identifier: CA1725926689

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489467_92489468delinsTA , CM000669.2:g.92489467_92489468delinsTA	GRCh38
NC_000007.13:g.92118781_92118782delinsTA , CM000669.1:g.92118781_92118782delinsTA	GRCh37
NC_000007.12:g.91956717_91956718delinsTA	NCBI36
NG_008341.1:g.44064_44065delinsTA
NG_008341.2:g.44064_44065delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3637-45_3637-44delinsTA (PEX1) MANE Select	ENSP00000248633.4:n.3637-45_3637-44delinsTA
ENST00000248633.8:c.3637-45_3637-44delinsTA (PEX1)	ENSP00000248633.4:n.3637-45_3637-44delinsTA
ENST00000428214.5:c.3466-45_3466-44delinsTA (PEX1)	ENSP00000394413.1:n.3466-45_3466-44delinsTA
ENST00000438045.5:c.2671-45_2671-44delinsTA (PEX1)	ENSP00000410438.1:n.2671-45_2671-44delinsTA
ENST00000469417.1:n.534-45_534-44delinsTA (PEX1)
ENST00000477342.1:n.327_328delinsTA (PEX1)
ENST00000484913.5:n.3676-45_3676-44delinsTA (PEX1)
ENST00000496420.5:n.4687-45_4687-44delinsTA (PEX1)
NM_000466.2:c.3637-45_3637-44delinsTA (PEX1)	NP_000457.1:n.3637-45_3637-44delinsTA
NM_001282677.1:c.3466-45_3466-44delinsTA (PEX1)	NP_001269606.1:n.3466-45_3466-44delinsTA
NM_001282678.1:c.3013-45_3013-44delinsTA (PEX1)	NP_001269607.1:n.3013-45_3013-44delinsTA
XM_005250433.3:c.1888-45_1888-44delinsTA (PEX1)	XP_005250490.1:n.1888-45_1888-44delinsTA
XR_242246.3:n.3728-45_3728-44delinsTA (PEX1)
XR_927494.1:n.1036-1776_1036-1775delinsTA (GATAD1)
XR_927495.1:n.1036-619_1036-618delinsTA (GATAD1)
XR_927496.1:n.1041-1776_1041-1775delinsTA (GATAD1)
XR_927497.1:n.1036-619_1036-618delinsTA (GATAD1)
XR_927498.1:n.1124-1776_1124-1775delinsTA (GATAD1)
XR_927500.1:n.1033-1776_1033-1775delinsTA (GATAD1)
XR_927502.1:n.1033-619_1033-618delinsTA (GATAD1)
XR_927503.1:n.967-1776_967-1775delinsTA (GATAD1)
XM_017012319.2:c.1888-45_1888-44delinsTA (PEX1)	XP_016867808.1:n.1888-45_1888-44delinsTA
XR_001744808.2:n.2659-45_2659-44delinsTA (PEX1)
XR_001744842.2:n.2281-1776_2281-1775delinsTA (GATAD1)
XR_001744843.2:n.2212-1776_2212-1775delinsTA (GATAD1)
XR_002956472.1:n.2281-619_2281-618delinsTA (GATAD1)
XR_002956473.1:n.2369-1776_2369-1775delinsTA (GATAD1)
XR_002956474.1:n.2286-1776_2286-1775delinsTA (GATAD1)
XR_242246.5:n.3679-45_3679-44delinsTA (PEX1)
XR_927494.3:n.1063-1776_1063-1775delinsTA (GATAD1)
XR_927500.3:n.1060-1776_1060-1775delinsTA (GATAD1)
XR_927503.3:n.994-1776_994-1775delinsTA (GATAD1)
NM_000466.3:c.3637-45_3637-44delinsTA (PEX1) MANE Select	NP_000457.1:n.3637-45_3637-44delinsTA
NM_001282677.2:c.3466-45_3466-44delinsTA (PEX1)	NP_001269606.1:n.3466-45_3466-44delinsTA
NM_001282678.2:c.3013-45_3013-44delinsTA (PEX1)	NP_001269607.1:n.3013-45_3013-44delinsTA