Canonical Allele Identifier: CA2683720485

Gene: PEX1

Linked Data - Sequence & Population

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92510940_92510942del , CM000669.2:g.92510940_92510942del	GRCh38
NC_000007.13:g.92140254_92140256del , CM000669.1:g.92140254_92140256del	GRCh37
NC_000007.12:g.91978190_91978192del	NCBI36
NG_008341.1:g.22592_22594del
NG_008341.2:g.22592_22594del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1587+4_1587+6del MANE Select	ENSP00000248633.4:n.1587+4_1587+6del
ENST00000248633.8:c.1587+4_1587+6del	ENSP00000248633.4:n.1587+4_1587+6del
ENST00000422866.1:c.488+4_488+6del
ENST00000428214.5:c.1587+4_1587+6del	ENSP00000394413.1:n.1587+4_1587+6del
ENST00000438045.5:c.621+4_621+6del	ENSP00000410438.1:n.621+4_621+6del
ENST00000476923.1:n.352_354del
ENST00000484913.5:n.1626+4_1626+6del
NM_000466.2:c.1587+4_1587+6del	NP_000457.1:n.1587+4_1587+6del
NM_001282677.1:c.1587+4_1587+6del	NP_001269606.1:n.1587+4_1587+6del
NM_001282678.1:c.963+4_963+6del	NP_001269607.1:n.963+4_963+6del
XM_005250433.3:c.-80+4_-80+6del	XP_005250490.1:n.-80+4_-80+6del
XR_242246.3:n.1683+4_1683+6del
XM_017012319.2:c.-80+4_-80+6del	XP_016867808.1:n.-80+4_-80+6del
XR_001744808.2:n.697+4_697+6del
XR_242246.5:n.1634+4_1634+6del
NM_000466.3:c.1587+4_1587+6del MANE Select	NP_000457.1:n.1587+4_1587+6del
NM_001282677.2:c.1587+4_1587+6del	NP_001269606.1:n.1587+4_1587+6del
NM_001282678.2:c.963+4_963+6del	NP_001269607.1:n.963+4_963+6del