Canonical Allele Identifier: CA2566998038

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494782_92494794del , CM000669.2:g.92494782_92494794del	GRCh38
NC_000007.13:g.92124096_92124108del , CM000669.1:g.92124096_92124108del	GRCh37
NC_000007.12:g.91962032_91962044del	NCBI36
NG_008341.1:g.38738_38750del
NG_008341.2:g.38738_38750del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2784-165_2784-153del MANE Select	ENSP00000248633.4:n.2784-165_2784-153del
ENST00000248633.8:c.2784-165_2784-153del	ENSP00000248633.4:n.2784-165_2784-153del
ENST00000428214.5:c.2613-165_2613-153del	ENSP00000394413.1:n.2613-165_2613-153del
ENST00000438045.5:c.1818-165_1818-153del	ENSP00000410438.1:n.1818-165_1818-153del
ENST00000484913.5:n.2823-165_2823-153del
ENST00000496420.5:n.2676-165_2676-153del
NM_000466.2:c.2784-165_2784-153del	NP_000457.1:n.2784-165_2784-153del
NM_001282677.1:c.2613-165_2613-153del	NP_001269606.1:n.2613-165_2613-153del
NM_001282678.1:c.2160-165_2160-153del	NP_001269607.1:n.2160-165_2160-153del
XM_005250433.3:c.1035-165_1035-153del	XP_005250490.1:n.1035-165_1035-153del
XR_242246.3:n.2880-165_2880-153del
XM_017012319.2:c.1035-165_1035-153del	XP_016867808.1:n.1035-165_1035-153del
XR_001744808.2:n.1811-165_1811-153del
XR_242246.5:n.2831-165_2831-153del
NM_000466.3:c.2784-165_2784-153del MANE Select	NP_000457.1:n.2784-165_2784-153del
NM_001282677.2:c.2613-165_2613-153del	NP_001269606.1:n.2613-165_2613-153del
NM_001282678.2:c.2160-165_2160-153del	NP_001269607.1:n.2160-165_2160-153del