Canonical Allele Identifier: CA2776946300

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502160_92502165del , CM000669.2:g.92502160_92502165del	GRCh38
NC_000007.13:g.92131474_92131479del , CM000669.1:g.92131474_92131479del	GRCh37
NC_000007.12:g.91969410_91969415del	NCBI36
NG_008341.1:g.31367_31372del
NG_008341.2:g.31367_31372del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2227-86_2227-81del MANE Select	ENSP00000248633.4:n.2227-86_2227-81del
ENST00000248633.8:c.2227-86_2227-81del	ENSP00000248633.4:n.2227-86_2227-81del
ENST00000428214.5:c.2056-86_2056-81del	ENSP00000394413.1:n.2056-86_2056-81del
ENST00000438045.5:c.1261-86_1261-81del	ENSP00000410438.1:n.1261-86_1261-81del
ENST00000484913.5:n.2266-86_2266-81del
ENST00000496092.1:n.25-86_25-81del
ENST00000496420.5:n.1903-86_1903-81del
NM_000466.2:c.2227-86_2227-81del	NP_000457.1:n.2227-86_2227-81del
NM_001282677.1:c.2056-86_2056-81del	NP_001269606.1:n.2056-86_2056-81del
NM_001282678.1:c.1603-86_1603-81del	NP_001269607.1:n.1603-86_1603-81del
XM_005250433.3:c.478-86_478-81del	XP_005250490.1:n.478-86_478-81del
XR_242246.3:n.2323-86_2323-81del
XM_017012319.2:c.478-86_478-81del	XP_016867808.1:n.478-86_478-81del
XR_001744808.2:n.1254-86_1254-81del
XR_242246.5:n.2274-86_2274-81del
NM_000466.3:c.2227-86_2227-81del MANE Select	NP_000457.1:n.2227-86_2227-81del
NM_001282677.2:c.2056-86_2056-81del	NP_001269606.1:n.2056-86_2056-81del
NM_001282678.2:c.1603-86_1603-81del	NP_001269607.1:n.1603-86_1603-81del