Canonical Allele Identifier: CA2776945669

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496884_92496896del , CM000669.2:g.92496884_92496896del	GRCh38
NC_000007.13:g.92126198_92126210del , CM000669.1:g.92126198_92126210del	GRCh37
NC_000007.12:g.91964134_91964146del	NCBI36
NG_008341.1:g.36638_36650del
NG_008341.2:g.36638_36650del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2719-117_2719-105del MANE Select	ENSP00000248633.4:n.2719-117_2719-105del
ENST00000248633.8:c.2719-117_2719-105del	ENSP00000248633.4:n.2719-117_2719-105del
ENST00000428214.5:c.2548-117_2548-105del	ENSP00000394413.1:n.2548-117_2548-105del
ENST00000438045.5:c.1753-117_1753-105del	ENSP00000410438.1:n.1753-117_1753-105del
ENST00000484913.5:n.2758-117_2758-105del
ENST00000496420.5:n.2611-117_2611-105del
NM_000466.2:c.2719-117_2719-105del	NP_000457.1:n.2719-117_2719-105del
NM_001282677.1:c.2548-117_2548-105del	NP_001269606.1:n.2548-117_2548-105del
NM_001282678.1:c.2095-117_2095-105del	NP_001269607.1:n.2095-117_2095-105del
XM_005250433.3:c.970-117_970-105del	XP_005250490.1:n.970-117_970-105del
XR_242246.3:n.2815-117_2815-105del
XM_017012319.2:c.970-117_970-105del	XP_016867808.1:n.970-117_970-105del
XR_001744808.2:n.1746-117_1746-105del
XR_242246.5:n.2766-117_2766-105del
NM_000466.3:c.2719-117_2719-105del MANE Select	NP_000457.1:n.2719-117_2719-105del
NM_001282677.2:c.2548-117_2548-105del	NP_001269606.1:n.2548-117_2548-105del
NM_001282678.2:c.2095-117_2095-105del	NP_001269607.1:n.2095-117_2095-105del