Canonical Allele Identifier: CA1725933381

Gene: PEX1

Linked Data

• dbSNP Id: rs1791672597

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496763_92496766del , CM000669.2:g.92496763_92496766del	GRCh38
NC_000007.13:g.92126077_92126080del , CM000669.1:g.92126077_92126080del	GRCh37
NC_000007.12:g.91964013_91964016del	NCBI36
NG_008341.1:g.36767_36770del
NG_008341.2:g.36767_36770del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2731_2734del MANE Select	ENSP00000248633.4:p.Leu911AlafsTer?
ENST00000248633.8:c.2731_2734del	ENSP00000248633.4:p.Leu911AlafsTer?
ENST00000428214.5:c.2560_2563del	ENSP00000394413.1:p.Leu854AlafsTer?
ENST00000438045.5:c.1765_1768del	ENSP00000410438.1:p.Leu589AlafsTer?
ENST00000484913.5:n.2770_2773del
ENST00000496420.5:n.2623_2626del
NM_000466.2:c.2731_2734del	NP_000457.1:p.Leu911AlafsTer?
NM_001282677.1:c.2560_2563del	NP_001269606.1:p.Leu854AlafsTer?
NM_001282678.1:c.2107_2110del	NP_001269607.1:p.Leu703AlafsTer?
XM_005250433.3:c.982_985del	XP_005250490.1:p.Leu328AlafsTer?
XR_242246.3:n.2827_2830del
XM_017012319.2:c.982_985del	XP_016867808.1:p.Leu328AlafsTer?
XR_001744808.2:n.1758_1761del
XR_242246.5:n.2778_2781del
NM_000466.3:c.2731_2734del MANE Select	NP_000457.1:p.Leu911AlafsTer?
NM_001282677.2:c.2560_2563del	NP_001269606.1:p.Leu854AlafsTer?
NM_001282678.2:c.2107_2110del	NP_001269607.1:p.Leu703AlafsTer?