Canonical Allele Identifier: CA2776947283

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517586_92517587del , CM000669.2:g.92517586_92517587del	GRCh38
NC_000007.13:g.92146900_92146901del , CM000669.1:g.92146900_92146901del	GRCh37
NC_000007.12:g.91984836_91984837del	NCBI36
NG_008341.1:g.15947_15948del
NG_008341.2:g.15947_15948del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.930_931del MANE Select	ENSP00000248633.4:p.Ala311HisfsTer12
ENST00000248633.8:c.930_931del	ENSP00000248633.4:p.Ala311HisfsTer12
ENST00000428214.5:c.930_931del	ENSP00000394413.1:p.Ala311HisfsTer12
ENST00000438045.5:c.274-3618_274-3617del	ENSP00000410438.1:n.274-3618_274-3617del
ENST00000484913.5:n.969_970del
NM_000466.2:c.930_931del	NP_000457.1:p.Ala311HisfsTer12
NM_001282677.1:c.930_931del	NP_001269606.1:p.Ala311HisfsTer12
NM_001282678.1:c.306_307del	NP_001269607.1:p.Ala103HisfsTer12
XR_242246.3:n.1026_1027del
XM_017012319.2:c.-737_-736del	XP_016867808.1:n.-737_-736del
XR_001744808.2:n.40_41del
XR_242246.5:n.977_978del
NM_000466.3:c.930_931del MANE Select	NP_000457.1:p.Ala311HisfsTer12
NM_001282677.2:c.930_931del	NP_001269606.1:p.Ala311HisfsTer12
NM_001282678.2:c.306_307del	NP_001269607.1:p.Ala103HisfsTer12