Canonical Allele Identifier: CA2740097743

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501639_92502079del , CM000669.2:g.92501639_92502079del	GRCh38
NC_000007.13:g.92130953_92131393del , CM000669.1:g.92130953_92131393del	GRCh37
NC_000007.12:g.91968889_91969329del	NCBI36
NG_008341.1:g.31453_31893del
NG_008341.2:g.31453_31893del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2227_2451del
ENST00000248633.8:c.2227_2451del
ENST00000428214.5:c.2056_2280del
ENST00000438045.5:c.1261_1485del
ENST00000484913.5:n.2266_2490del
ENST00000496420.5:n.1903_2343del
NM_000466.2:c.2227_2451del
NM_001282677.1:c.2056_2280del
NM_001282678.1:c.1603_1827del
XM_005250433.3:c.478_702del
XR_242246.3:n.2323_2547del
XM_017012319.2:c.478_702del
XR_001744808.2:n.1254_1478del
XR_242246.5:n.2274_2498del
NM_000466.3:c.2227_2451del
NM_001282677.2:c.2056_2280del
NM_001282678.2:c.1603_1827del