Canonical Allele Identifier: CA2578937847

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494556_92494558del , CM000669.2:g.92494556_92494558del	GRCh38
NC_000007.13:g.92123870_92123872del , CM000669.1:g.92123870_92123872del	GRCh37
NC_000007.12:g.91961806_91961808del	NCBI36
NG_008341.1:g.38977_38979del
NG_008341.2:g.38977_38979del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2858_2860del (PEX1) MANE Select	ENSP00000248633.4:p.Asn953del
ENST00000248633.8:c.2858_2860del (PEX1)	ENSP00000248633.4:p.Asn953del
ENST00000428214.5:c.2687_2689del (PEX1)	ENSP00000394413.1:p.Asn896del
ENST00000438045.5:c.1892_1894del (PEX1)	ENSP00000410438.1:p.Asn631del
ENST00000484913.5:n.2897_2899del (PEX1)
ENST00000496420.5:n.2750_2752del (PEX1)
NM_000466.2:c.2858_2860del (PEX1)	NP_000457.1:p.Asn953del
NM_001282677.1:c.2687_2689del (PEX1)	NP_001269606.1:p.Asn896del
NM_001282678.1:c.2234_2236del (PEX1)	NP_001269607.1:p.Asn745del
XM_005250433.3:c.1109_1111del (PEX1)	XP_005250490.1:p.Asn370del
XR_242246.3:n.2954_2956del (PEX1)
XM_017012319.2:c.1109_1111del (PEX1)	XP_016867808.1:p.Asn370del
XR_001744808.2:n.1885_1887del (PEX1)
XR_001744843.2:n.5525_5527del (GATAD1)
XR_242246.5:n.2905_2907del (PEX1)
XR_927494.3:n.4376_4378del (GATAD1)
XR_927503.3:n.4307_4309del (GATAD1)
NM_000466.3:c.2858_2860del (PEX1) MANE Select	NP_000457.1:p.Asn953del
NM_001282677.2:c.2687_2689del (PEX1)	NP_001269606.1:p.Asn896del
NM_001282678.2:c.2234_2236del (PEX1)	NP_001269607.1:p.Asn745del