Canonical Allele Identifier: CA2776946250

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502107_92502111del , CM000669.2:g.92502107_92502111del	GRCh38
NC_000007.13:g.92131421_92131425del , CM000669.1:g.92131421_92131425del	GRCh37
NC_000007.12:g.91969357_91969361del	NCBI36
NG_008341.1:g.31421_31425del
NG_008341.2:g.31421_31425del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2227-32_2227-28del MANE Select	ENSP00000248633.4:n.2227-32_2227-28del
ENST00000248633.8:c.2227-32_2227-28del	ENSP00000248633.4:n.2227-32_2227-28del
ENST00000428214.5:c.2056-32_2056-28del	ENSP00000394413.1:n.2056-32_2056-28del
ENST00000438045.5:c.1261-32_1261-28del	ENSP00000410438.1:n.1261-32_1261-28del
ENST00000484913.5:n.2266-32_2266-28del
ENST00000496092.1:n.25-32_25-28del
ENST00000496420.5:n.1903-32_1903-28del
NM_000466.2:c.2227-32_2227-28del	NP_000457.1:n.2227-32_2227-28del
NM_001282677.1:c.2056-32_2056-28del	NP_001269606.1:n.2056-32_2056-28del
NM_001282678.1:c.1603-32_1603-28del	NP_001269607.1:n.1603-32_1603-28del
XM_005250433.3:c.478-32_478-28del	XP_005250490.1:n.478-32_478-28del
XR_242246.3:n.2323-32_2323-28del
XM_017012319.2:c.478-32_478-28del	XP_016867808.1:n.478-32_478-28del
XR_001744808.2:n.1254-32_1254-28del
XR_242246.5:n.2274-32_2274-28del
NM_000466.3:c.2227-32_2227-28del MANE Select	NP_000457.1:n.2227-32_2227-28del
NM_001282677.2:c.2056-32_2056-28del	NP_001269606.1:n.2056-32_2056-28del
NM_001282678.2:c.1603-32_1603-28del	NP_001269607.1:n.1603-32_1603-28del