Canonical Allele Identifier: CA2776946274

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502132_92502134del , CM000669.2:g.92502132_92502134del	GRCh38
NC_000007.13:g.92131446_92131448del , CM000669.1:g.92131446_92131448del	GRCh37
NC_000007.12:g.91969382_91969384del	NCBI36
NG_008341.1:g.31400_31402del
NG_008341.2:g.31400_31402del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2227-53_2227-51del MANE Select	ENSP00000248633.4:n.2227-53_2227-51del
ENST00000248633.8:c.2227-53_2227-51del	ENSP00000248633.4:n.2227-53_2227-51del
ENST00000428214.5:c.2056-53_2056-51del	ENSP00000394413.1:n.2056-53_2056-51del
ENST00000438045.5:c.1261-53_1261-51del	ENSP00000410438.1:n.1261-53_1261-51del
ENST00000484913.5:n.2266-53_2266-51del
ENST00000496092.1:n.25-53_25-51del
ENST00000496420.5:n.1903-53_1903-51del
NM_000466.2:c.2227-53_2227-51del	NP_000457.1:n.2227-53_2227-51del
NM_001282677.1:c.2056-53_2056-51del	NP_001269606.1:n.2056-53_2056-51del
NM_001282678.1:c.1603-53_1603-51del	NP_001269607.1:n.1603-53_1603-51del
XM_005250433.3:c.478-53_478-51del	XP_005250490.1:n.478-53_478-51del
XR_242246.3:n.2323-53_2323-51del
XM_017012319.2:c.478-53_478-51del	XP_016867808.1:n.478-53_478-51del
XR_001744808.2:n.1254-53_1254-51del
XR_242246.5:n.2274-53_2274-51del
NM_000466.3:c.2227-53_2227-51del MANE Select	NP_000457.1:n.2227-53_2227-51del
NM_001282677.2:c.2056-53_2056-51del	NP_001269606.1:n.2056-53_2056-51del
NM_001282678.2:c.1603-53_1603-51del	NP_001269607.1:n.1603-53_1603-51del