Canonical Allele Identifier: CA2776945607

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491642_92491643del , CM000669.2:g.92491642_92491643del	GRCh38
NC_000007.13:g.92120956_92120957del , CM000669.1:g.92120956_92120957del	GRCh37
NC_000007.12:g.91958892_91958893del	NCBI36
NG_008341.1:g.41889_41890del
NG_008341.2:g.41889_41890del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3208-141_3208-140del (PEX1) MANE Select	ENSP00000248633.4:n.3208-141_3208-140del
ENST00000248633.8:c.3208-141_3208-140del (PEX1)	ENSP00000248633.4:n.3208-141_3208-140del
ENST00000428214.5:c.3037-141_3037-140del (PEX1)	ENSP00000394413.1:n.3037-141_3037-140del
ENST00000438045.5:c.2242-141_2242-140del (PEX1)	ENSP00000410438.1:n.2242-141_2242-140del
ENST00000484913.5:n.3247-141_3247-140del (PEX1)
ENST00000496420.5:n.4263-141_4263-140del (PEX1)
NM_000466.2:c.3208-141_3208-140del (PEX1)	NP_000457.1:n.3208-141_3208-140del
NM_001282677.1:c.3037-141_3037-140del (PEX1)	NP_001269606.1:n.3037-141_3037-140del
NM_001282678.1:c.2584-141_2584-140del (PEX1)	NP_001269607.1:n.2584-141_2584-140del
XM_005250433.3:c.1459-141_1459-140del (PEX1)	XP_005250490.1:n.1459-141_1459-140del
XR_242246.3:n.3304-141_3304-140del (PEX1)
XM_017012319.2:c.1459-141_1459-140del (PEX1)	XP_016867808.1:n.1459-141_1459-140del
XR_001744808.2:n.2235-141_2235-140del (PEX1)
XR_001744842.2:n.2680_2681del (GATAD1)
XR_001744843.2:n.2611_2612del (GATAD1)
XR_002956472.1:n.2737_2738del (GATAD1)
XR_002956473.1:n.2768_2769del (GATAD1)
XR_002956474.1:n.2685_2686del (GATAD1)
XR_242246.5:n.3255-141_3255-140del (PEX1)
XR_927494.3:n.1462_1463del (GATAD1)
XR_927500.3:n.1459_1460del (GATAD1)
XR_927503.3:n.1393_1394del (GATAD1)
NM_000466.3:c.3208-141_3208-140del (PEX1) MANE Select	NP_000457.1:n.3208-141_3208-140del
NM_001282677.2:c.3037-141_3037-140del (PEX1)	NP_001269606.1:n.3037-141_3037-140del
NM_001282678.2:c.2584-141_2584-140del (PEX1)	NP_001269607.1:n.2584-141_2584-140del