Canonical Allele Identifier: CA2543048219

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494399del , CM000669.2:g.92494399del	GRCh38
NC_000007.13:g.92123713del , CM000669.1:g.92123713del	GRCh37
NC_000007.12:g.91961649del	NCBI36
NG_008341.1:g.39133del
NG_008341.2:g.39133del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2927-3del (PEX1) MANE Select	ENSP00000248633.4:n.2927-3del
ENST00000248633.8:c.2927-3del (PEX1)	ENSP00000248633.4:n.2927-3del
ENST00000428214.5:c.2756-3del (PEX1)	ENSP00000394413.1:n.2756-3del
ENST00000438045.5:c.1961-3del (PEX1)	ENSP00000410438.1:n.1961-3del
ENST00000484913.5:n.2966-3del (PEX1)
ENST00000496420.5:n.2819-3del (PEX1)
NM_000466.2:c.2927-3del (PEX1)	NP_000457.1:n.2927-3del
NM_001282677.1:c.2756-3del (PEX1)	NP_001269606.1:n.2756-3del
NM_001282678.1:c.2303-3del (PEX1)	NP_001269607.1:n.2303-3del
XM_005250433.3:c.1178-3del (PEX1)	XP_005250490.1:n.1178-3del
XR_242246.3:n.3023-3del (PEX1)
XM_017012319.2:c.1178-3del (PEX1)	XP_016867808.1:n.1178-3del
XR_001744808.2:n.1954-3del (PEX1)
XR_001744843.2:n.5368del (GATAD1)
XR_242246.5:n.2974-3del (PEX1)
XR_927494.3:n.4219del (GATAD1)
XR_927503.3:n.4150del (GATAD1)
NM_000466.3:c.2927-3del (PEX1) MANE Select	NP_000457.1:n.2927-3del
NM_001282677.2:c.2756-3del (PEX1)	NP_001269606.1:n.2756-3del
NM_001282678.2:c.2303-3del (PEX1)	NP_001269607.1:n.2303-3del