Canonical Allele Identifier: CA2578937871

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496667_92496670del , CM000669.2:g.92496667_92496670del	GRCh38
NC_000007.13:g.92125981_92125984del , CM000669.1:g.92125981_92125984del	GRCh37
NC_000007.12:g.91963917_91963920del	NCBI36
NG_008341.1:g.36866_36869del
NG_008341.2:g.36866_36869del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2783+47_2783+50del MANE Select	ENSP00000248633.4:n.2783+47_2783+50del
ENST00000248633.8:c.2783+47_2783+50del	ENSP00000248633.4:n.2783+47_2783+50del
ENST00000428214.5:c.2612+47_2612+50del	ENSP00000394413.1:n.2612+47_2612+50del
ENST00000438045.5:c.1817+47_1817+50del	ENSP00000410438.1:n.1817+47_1817+50del
ENST00000484913.5:n.2822+47_2822+50del
ENST00000496420.5:n.2675+47_2675+50del
NM_000466.2:c.2783+47_2783+50del	NP_000457.1:n.2783+47_2783+50del
NM_001282677.1:c.2612+47_2612+50del	NP_001269606.1:n.2612+47_2612+50del
NM_001282678.1:c.2159+47_2159+50del	NP_001269607.1:n.2159+47_2159+50del
XM_005250433.3:c.1034+47_1034+50del	XP_005250490.1:n.1034+47_1034+50del
XR_242246.3:n.2879+47_2879+50del
XM_017012319.2:c.1034+47_1034+50del	XP_016867808.1:n.1034+47_1034+50del
XR_001744808.2:n.1810+47_1810+50del
XR_242246.5:n.2830+47_2830+50del
NM_000466.3:c.2783+47_2783+50del MANE Select	NP_000457.1:n.2783+47_2783+50del
NM_001282677.2:c.2612+47_2612+50del	NP_001269606.1:n.2612+47_2612+50del
NM_001282678.2:c.2159+47_2159+50del	NP_001269607.1:n.2159+47_2159+50del