Canonical Allele Identifier: CA2776947275

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517505_92517507del , CM000669.2:g.92517505_92517507del	GRCh38
NC_000007.13:g.92146819_92146821del , CM000669.1:g.92146819_92146821del	GRCh37
NC_000007.12:g.91984755_91984757del	NCBI36
NG_008341.1:g.16025_16027del
NG_008341.2:g.16025_16027del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1008_1010del MANE Select	ENSP00000248633.4:p.Lys337del
ENST00000248633.8:c.1008_1010del	ENSP00000248633.4:p.Lys337del
ENST00000428214.5:c.1008_1010del	ENSP00000394413.1:p.Lys337del
ENST00000438045.5:c.274-3540_274-3538del	ENSP00000410438.1:n.274-3540_274-3538del
ENST00000484913.5:n.1047_1049del
NM_000466.2:c.1008_1010del	NP_000457.1:p.Lys337del
NM_001282677.1:c.1008_1010del	NP_001269606.1:p.Lys337del
NM_001282678.1:c.384_386del	NP_001269607.1:p.Lys129del
XR_242246.3:n.1104_1106del
XM_017012319.2:c.-659_-657del	XP_016867808.1:n.-659_-657del
XR_001744808.2:n.118_120del
XR_242246.5:n.1055_1057del
NM_000466.3:c.1008_1010del MANE Select	NP_000457.1:p.Lys337del
NM_001282677.2:c.1008_1010del	NP_001269606.1:p.Lys337del
NM_001282678.2:c.384_386del	NP_001269607.1:p.Lys129del