Canonical Allele Identifier: CA2776945564

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491530_92491532del , CM000669.2:g.92491530_92491532del	GRCh38
NC_000007.13:g.92120844_92120846del , CM000669.1:g.92120844_92120846del	GRCh37
NC_000007.12:g.91958780_91958782del	NCBI36
NG_008341.1:g.42000_42002del
NG_008341.2:g.42000_42002del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3208-30_3208-28del (PEX1) MANE Select	ENSP00000248633.4:n.3208-30_3208-28del
ENST00000248633.8:c.3208-30_3208-28del (PEX1)	ENSP00000248633.4:n.3208-30_3208-28del
ENST00000428214.5:c.3037-30_3037-28del (PEX1)	ENSP00000394413.1:n.3037-30_3037-28del
ENST00000438045.5:c.2242-30_2242-28del (PEX1)	ENSP00000410438.1:n.2242-30_2242-28del
ENST00000484913.5:n.3247-30_3247-28del (PEX1)
ENST00000496420.5:n.4263-30_4263-28del (PEX1)
NM_000466.2:c.3208-30_3208-28del (PEX1)	NP_000457.1:n.3208-30_3208-28del
NM_001282677.1:c.3037-30_3037-28del (PEX1)	NP_001269606.1:n.3037-30_3037-28del
NM_001282678.1:c.2584-30_2584-28del (PEX1)	NP_001269607.1:n.2584-30_2584-28del
XM_005250433.3:c.1459-30_1459-28del (PEX1)	XP_005250490.1:n.1459-30_1459-28del
XR_242246.3:n.3304-30_3304-28del (PEX1)
XM_017012319.2:c.1459-30_1459-28del (PEX1)	XP_016867808.1:n.1459-30_1459-28del
XR_001744808.2:n.2235-30_2235-28del (PEX1)
XR_001744842.2:n.2568_2570del (GATAD1)
XR_001744843.2:n.2499_2501del (GATAD1)
XR_002956472.1:n.2625_2627del (GATAD1)
XR_002956473.1:n.2656_2658del (GATAD1)
XR_002956474.1:n.2573_2575del (GATAD1)
XR_242246.5:n.3255-30_3255-28del (PEX1)
XR_927494.3:n.1350_1352del (GATAD1)
XR_927500.3:n.1347_1349del (GATAD1)
XR_927503.3:n.1281_1283del (GATAD1)
NM_000466.3:c.3208-30_3208-28del (PEX1) MANE Select	NP_000457.1:n.3208-30_3208-28del
NM_001282677.2:c.3037-30_3037-28del (PEX1)	NP_001269606.1:n.3037-30_3037-28del
NM_001282678.2:c.2584-30_2584-28del (PEX1)	NP_001269607.1:n.2584-30_2584-28del