Canonical Allele Identifier: CA2776945341

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489465_92489467del , CM000669.2:g.92489465_92489467del	GRCh38
NC_000007.13:g.92118779_92118781del , CM000669.1:g.92118779_92118781del	GRCh37
NC_000007.12:g.91956715_91956717del	NCBI36
NG_008341.1:g.44065_44067del
NG_008341.2:g.44065_44067del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3637-44_3637-42del (PEX1) MANE Select	ENSP00000248633.4:n.3637-44_3637-42del
ENST00000248633.8:c.3637-44_3637-42del (PEX1)	ENSP00000248633.4:n.3637-44_3637-42del
ENST00000428214.5:c.3466-44_3466-42del (PEX1)	ENSP00000394413.1:n.3466-44_3466-42del
ENST00000438045.5:c.2671-44_2671-42del (PEX1)	ENSP00000410438.1:n.2671-44_2671-42del
ENST00000469417.1:n.534-44_534-42del (PEX1)
ENST00000477342.1:n.328_330del (PEX1)
ENST00000484913.5:n.3676-44_3676-42del (PEX1)
ENST00000496420.5:n.4687-44_4687-42del (PEX1)
NM_000466.2:c.3637-44_3637-42del (PEX1)	NP_000457.1:n.3637-44_3637-42del
NM_001282677.1:c.3466-44_3466-42del (PEX1)	NP_001269606.1:n.3466-44_3466-42del
NM_001282678.1:c.3013-44_3013-42del (PEX1)	NP_001269607.1:n.3013-44_3013-42del
XM_005250433.3:c.1888-44_1888-42del (PEX1)	XP_005250490.1:n.1888-44_1888-42del
XR_242246.3:n.3728-44_3728-42del (PEX1)
XR_927494.1:n.1036-1778_1036-1776del (GATAD1)
XR_927495.1:n.1036-621_1036-619del (GATAD1)
XR_927496.1:n.1041-1778_1041-1776del (GATAD1)
XR_927497.1:n.1036-621_1036-619del (GATAD1)
XR_927498.1:n.1124-1778_1124-1776del (GATAD1)
XR_927500.1:n.1033-1778_1033-1776del (GATAD1)
XR_927502.1:n.1033-621_1033-619del (GATAD1)
XR_927503.1:n.967-1778_967-1776del (GATAD1)
XM_017012319.2:c.1888-44_1888-42del (PEX1)	XP_016867808.1:n.1888-44_1888-42del
XR_001744808.2:n.2659-44_2659-42del (PEX1)
XR_001744842.2:n.2281-1778_2281-1776del (GATAD1)
XR_001744843.2:n.2212-1778_2212-1776del (GATAD1)
XR_002956472.1:n.2281-621_2281-619del (GATAD1)
XR_002956473.1:n.2369-1778_2369-1776del (GATAD1)
XR_002956474.1:n.2286-1778_2286-1776del (GATAD1)
XR_242246.5:n.3679-44_3679-42del (PEX1)
XR_927494.3:n.1063-1778_1063-1776del (GATAD1)
XR_927500.3:n.1060-1778_1060-1776del (GATAD1)
XR_927503.3:n.994-1778_994-1776del (GATAD1)
NM_000466.3:c.3637-44_3637-42del (PEX1) MANE Select	NP_000457.1:n.3637-44_3637-42del
NM_001282677.2:c.3466-44_3466-42del (PEX1)	NP_001269606.1:n.3466-44_3466-42del
NM_001282678.2:c.3013-44_3013-42del (PEX1)	NP_001269607.1:n.3013-44_3013-42del