Canonical Allele Identifier: CA2776945560

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491523_92491524del , CM000669.2:g.92491523_92491524del	GRCh38
NC_000007.13:g.92120837_92120838del , CM000669.1:g.92120837_92120838del	GRCh37
NC_000007.12:g.91958773_91958774del	NCBI36
NG_008341.1:g.42008_42009del
NG_008341.2:g.42008_42009del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3208-22_3208-21del (PEX1) MANE Select	ENSP00000248633.4:n.3208-22_3208-21del
ENST00000248633.8:c.3208-22_3208-21del (PEX1)	ENSP00000248633.4:n.3208-22_3208-21del
ENST00000428214.5:c.3037-22_3037-21del (PEX1)	ENSP00000394413.1:n.3037-22_3037-21del
ENST00000438045.5:c.2242-22_2242-21del (PEX1)	ENSP00000410438.1:n.2242-22_2242-21del
ENST00000484913.5:n.3247-22_3247-21del (PEX1)
ENST00000496420.5:n.4263-22_4263-21del (PEX1)
NM_000466.2:c.3208-22_3208-21del (PEX1)	NP_000457.1:n.3208-22_3208-21del
NM_001282677.1:c.3037-22_3037-21del (PEX1)	NP_001269606.1:n.3037-22_3037-21del
NM_001282678.1:c.2584-22_2584-21del (PEX1)	NP_001269607.1:n.2584-22_2584-21del
XM_005250433.3:c.1459-22_1459-21del (PEX1)	XP_005250490.1:n.1459-22_1459-21del
XR_242246.3:n.3304-22_3304-21del (PEX1)
XM_017012319.2:c.1459-22_1459-21del (PEX1)	XP_016867808.1:n.1459-22_1459-21del
XR_001744808.2:n.2235-22_2235-21del (PEX1)
XR_001744842.2:n.2561_2562del (GATAD1)
XR_001744843.2:n.2492_2493del (GATAD1)
XR_002956472.1:n.2618_2619del (GATAD1)
XR_002956473.1:n.2649_2650del (GATAD1)
XR_002956474.1:n.2566_2567del (GATAD1)
XR_242246.5:n.3255-22_3255-21del (PEX1)
XR_927494.3:n.1343_1344del (GATAD1)
XR_927500.3:n.1340_1341del (GATAD1)
XR_927503.3:n.1274_1275del (GATAD1)
NM_000466.3:c.3208-22_3208-21del (PEX1) MANE Select	NP_000457.1:n.3208-22_3208-21del
NM_001282677.2:c.3037-22_3037-21del (PEX1)	NP_001269606.1:n.3037-22_3037-21del
NM_001282678.2:c.2584-22_2584-21del (PEX1)	NP_001269607.1:n.2584-22_2584-21del