Canonical Allele Identifier: CA3038675909

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502077_92502081del , CM000669.2:g.92502077_92502081del	GRCh38
NC_000007.13:g.92131391_92131395del , CM000669.1:g.92131391_92131395del	GRCh37
NC_000007.12:g.91969327_91969331del	NCBI36
NG_008341.1:g.31451_31455del
NG_008341.2:g.31451_31455del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2227-2_2229del
ENST00000248633.8:c.2227-2_2229del
ENST00000428214.5:c.2056-2_2058del
ENST00000438045.5:c.1261-2_1263del
ENST00000484913.5:n.2266-2_2268del
ENST00000496092.1:n.25-2_27del
ENST00000496420.5:n.1903-2_1905del
NM_000466.2:c.2227-2_2229del
NM_001282677.1:c.2056-2_2058del
NM_001282678.1:c.1603-2_1605del
XM_005250433.3:c.478-2_480del
XR_242246.3:n.2323-2_2325del
XM_017012319.2:c.478-2_480del
XR_001744808.2:n.1254-2_1256del
XR_242246.5:n.2274-2_2276del
NM_000466.3:c.2227-2_2229del
NM_001282677.2:c.2056-2_2058del
NM_001282678.2:c.1603-2_1605del