Canonical Allele Identifier: CA2578937877

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496709del , CM000669.2:g.92496709del	GRCh38
NC_000007.13:g.92126023del , CM000669.1:g.92126023del	GRCh37
NC_000007.12:g.91963959del	NCBI36
NG_008341.1:g.36824del
NG_008341.2:g.36824del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2783+5del MANE Select	ENSP00000248633.4:n.2783+5del
ENST00000248633.8:c.2783+5del	ENSP00000248633.4:n.2783+5del
ENST00000428214.5:c.2612+5del	ENSP00000394413.1:n.2612+5del
ENST00000438045.5:c.1817+5del	ENSP00000410438.1:n.1817+5del
ENST00000484913.5:n.2822+5del
ENST00000496420.5:n.2675+5del
NM_000466.2:c.2783+5del	NP_000457.1:n.2783+5del
NM_001282677.1:c.2612+5del	NP_001269606.1:n.2612+5del
NM_001282678.1:c.2159+5del	NP_001269607.1:n.2159+5del
XM_005250433.3:c.1034+5del	XP_005250490.1:n.1034+5del
XR_242246.3:n.2879+5del
XM_017012319.2:c.1034+5del	XP_016867808.1:n.1034+5del
XR_001744808.2:n.1810+5del
XR_242246.5:n.2830+5del
NM_000466.3:c.2783+5del MANE Select	NP_000457.1:n.2783+5del
NM_001282677.2:c.2612+5del	NP_001269606.1:n.2612+5del
NM_001282678.2:c.2159+5del	NP_001269607.1:n.2159+5del