Canonical Allele Identifier: CA2776946243

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502079_92502081del , CM000669.2:g.92502079_92502081del	GRCh38
NC_000007.13:g.92131393_92131395del , CM000669.1:g.92131393_92131395del	GRCh37
NC_000007.12:g.91969329_91969331del	NCBI36
NG_008341.1:g.31452_31454del
NG_008341.2:g.31452_31454del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2227-1_2228del
ENST00000248633.8:c.2227-1_2228del
ENST00000428214.5:c.2056-1_2057del
ENST00000438045.5:c.1261-1_1262del
ENST00000484913.5:n.2266-1_2267del
ENST00000496092.1:n.25-1_26del
ENST00000496420.5:n.1903-1_1904del
NM_000466.2:c.2227-1_2228del
NM_001282677.1:c.2056-1_2057del
NM_001282678.1:c.1603-1_1604del
XM_005250433.3:c.478-1_479del
XR_242246.3:n.2323-1_2324del
XM_017012319.2:c.478-1_479del
XR_001744808.2:n.1254-1_1255del
XR_242246.5:n.2274-1_2275del
NM_000466.3:c.2227-1_2228del
NM_001282677.2:c.2056-1_2057del
NM_001282678.2:c.1603-1_1604del