Canonical Allele Identifier: CA2546712355

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494786_92494789del , CM000669.2:g.92494786_92494789del	GRCh38
NC_000007.13:g.92124100_92124103del , CM000669.1:g.92124100_92124103del	GRCh37
NC_000007.12:g.91962036_91962039del	NCBI36
NG_008341.1:g.38747_38750del
NG_008341.2:g.38747_38750del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2784-156_2784-153del MANE Select	ENSP00000248633.4:n.2784-156_2784-153del
ENST00000248633.8:c.2784-156_2784-153del	ENSP00000248633.4:n.2784-156_2784-153del
ENST00000428214.5:c.2613-156_2613-153del	ENSP00000394413.1:n.2613-156_2613-153del
ENST00000438045.5:c.1818-156_1818-153del	ENSP00000410438.1:n.1818-156_1818-153del
ENST00000484913.5:n.2823-156_2823-153del
ENST00000496420.5:n.2676-156_2676-153del
NM_000466.2:c.2784-156_2784-153del	NP_000457.1:n.2784-156_2784-153del
NM_001282677.1:c.2613-156_2613-153del	NP_001269606.1:n.2613-156_2613-153del
NM_001282678.1:c.2160-156_2160-153del	NP_001269607.1:n.2160-156_2160-153del
XM_005250433.3:c.1035-156_1035-153del	XP_005250490.1:n.1035-156_1035-153del
XR_242246.3:n.2880-156_2880-153del
XM_017012319.2:c.1035-156_1035-153del	XP_016867808.1:n.1035-156_1035-153del
XR_001744808.2:n.1811-156_1811-153del
XR_242246.5:n.2831-156_2831-153del
NM_000466.3:c.2784-156_2784-153del MANE Select	NP_000457.1:n.2784-156_2784-153del
NM_001282677.2:c.2613-156_2613-153del	NP_001269606.1:n.2613-156_2613-153del
NM_001282678.2:c.2160-156_2160-153del	NP_001269607.1:n.2160-156_2160-153del