Canonical Allele Identifier: CA913127960

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92131355_92131358del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502041_92502044del , CM000669.2:g.92502041_92502044del	GRCh38
NC_000007.13:g.92131355_92131358del , CM000669.1:g.92131355_92131358del	GRCh37
NC_000007.12:g.91969291_91969294del	NCBI36
NG_008341.1:g.31492_31495del
NG_008341.2:g.31492_31495del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2266_2269del MANE Select	ENSP00000248633.4:p.Lys756TrpfsTer5
ENST00000248633.8:c.2266_2269del	ENSP00000248633.4:p.Lys756TrpfsTer5
ENST00000428214.5:c.2095_2098del	ENSP00000394413.1:p.Lys699TrpfsTer5
ENST00000438045.5:c.1300_1303del	ENSP00000410438.1:p.Lys434TrpfsTer5
ENST00000484913.5:n.2305_2308del
ENST00000496092.1:n.64_67del
ENST00000496420.5:n.1942_1945del
NM_000466.2:c.2266_2269del	NP_000457.1:p.Lys756TrpfsTer5
NM_001282677.1:c.2095_2098del	NP_001269606.1:p.Lys699TrpfsTer5
NM_001282678.1:c.1642_1645del	NP_001269607.1:p.Lys548TrpfsTer5
XM_005250433.3:c.517_520del	XP_005250490.1:p.Lys173TrpfsTer5
XR_242246.3:n.2362_2365del
XM_017012319.2:c.517_520del	XP_016867808.1:p.Lys173TrpfsTer5
XR_001744808.2:n.1293_1296del
XR_242246.5:n.2313_2316del
NM_000466.3:c.2266_2269del MANE Select	NP_000457.1:p.Lys756TrpfsTer5
NM_001282677.2:c.2095_2098del	NP_001269606.1:p.Lys699TrpfsTer5
NM_001282678.2:c.1642_1645del	NP_001269607.1:p.Lys548TrpfsTer5