Canonical Allele Identifier: CA913127959

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92131217dup (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501903dup , CM000669.2:g.92501903dup	GRCh38
NC_000007.13:g.92131217dup , CM000669.1:g.92131217dup	GRCh37
NC_000007.12:g.91969153dup	NCBI36
NG_008341.1:g.31629dup
NG_008341.2:g.31629dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2403dup MANE Select	ENSP00000248633.4:p.Ser802IlefsTer?
ENST00000248633.8:c.2403dup	ENSP00000248633.4:p.Ser802IlefsTer?
ENST00000428214.5:c.2232dup	ENSP00000394413.1:p.Ser745IlefsTer?
ENST00000438045.5:c.1437dup	ENSP00000410438.1:p.Ser480IlefsTer?
ENST00000484913.5:n.2442dup
ENST00000496092.1:n.201dup
ENST00000496420.5:n.2079dup
NM_000466.2:c.2403dup	NP_000457.1:p.Ser802IlefsTer?
NM_001282677.1:c.2232dup	NP_001269606.1:p.Ser745IlefsTer?
NM_001282678.1:c.1779dup	NP_001269607.1:p.Ser594IlefsTer?
XM_005250433.3:c.654dup	XP_005250490.1:p.Ser219IlefsTer?
XR_242246.3:n.2499dup
XM_017012319.2:c.654dup	XP_016867808.1:p.Ser219IlefsTer?
XR_001744808.2:n.1430dup
XR_242246.5:n.2450dup
NM_000466.3:c.2403dup MANE Select	NP_000457.1:p.Ser802IlefsTer?
NM_001282677.2:c.2232dup	NP_001269606.1:p.Ser745IlefsTer?
NM_001282678.2:c.1779dup	NP_001269607.1:p.Ser594IlefsTer?