Canonical Allele Identifier: CA2776946261

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502118_92502119del , CM000669.2:g.92502118_92502119del	GRCh38
NC_000007.13:g.92131432_92131433del , CM000669.1:g.92131432_92131433del	GRCh37
NC_000007.12:g.91969368_91969369del	NCBI36
NG_008341.1:g.31413_31414del
NG_008341.2:g.31413_31414del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2227-40_2227-39del MANE Select	ENSP00000248633.4:n.2227-40_2227-39del
ENST00000248633.8:c.2227-40_2227-39del	ENSP00000248633.4:n.2227-40_2227-39del
ENST00000428214.5:c.2056-40_2056-39del	ENSP00000394413.1:n.2056-40_2056-39del
ENST00000438045.5:c.1261-40_1261-39del	ENSP00000410438.1:n.1261-40_1261-39del
ENST00000484913.5:n.2266-40_2266-39del
ENST00000496092.1:n.25-40_25-39del
ENST00000496420.5:n.1903-40_1903-39del
NM_000466.2:c.2227-40_2227-39del	NP_000457.1:n.2227-40_2227-39del
NM_001282677.1:c.2056-40_2056-39del	NP_001269606.1:n.2056-40_2056-39del
NM_001282678.1:c.1603-40_1603-39del	NP_001269607.1:n.1603-40_1603-39del
XM_005250433.3:c.478-40_478-39del	XP_005250490.1:n.478-40_478-39del
XR_242246.3:n.2323-40_2323-39del
XM_017012319.2:c.478-40_478-39del	XP_016867808.1:n.478-40_478-39del
XR_001744808.2:n.1254-40_1254-39del
XR_242246.5:n.2274-40_2274-39del
NM_000466.3:c.2227-40_2227-39del MANE Select	NP_000457.1:n.2227-40_2227-39del
NM_001282677.2:c.2056-40_2056-39del	NP_001269606.1:n.2056-40_2056-39del
NM_001282678.2:c.1603-40_1603-39del	NP_001269607.1:n.1603-40_1603-39del