Canonical Allele Identifier: CA2683718699

Gene: PEX1

Linked Data

• gnomAD v4: 7-92504644-TTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504648_92504649del , CM000669.2:g.92504648_92504649del	GRCh38
NC_000007.13:g.92133962_92133963del , CM000669.1:g.92133962_92133963del	GRCh37
NC_000007.12:g.91971898_91971899del	NCBI36
NG_008341.1:g.28886_28887del
NG_008341.2:g.28886_28887del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2071+86_2071+87del MANE Select	ENSP00000248633.4:n.2071+86_2071+87del
ENST00000248633.8:c.2071+86_2071+87del	ENSP00000248633.4:n.2071+86_2071+87del
ENST00000428214.5:c.1901-1451_1901-1450del	ENSP00000394413.1:n.1901-1451_1901-1450de...
ENST00000438045.5:c.1105+86_1105+87del	ENSP00000410438.1:n.1105+86_1105+87del
ENST00000484913.5:n.2110+86_2110+87del
ENST00000496420.5:n.1747+86_1747+87del
NM_000466.2:c.2071+86_2071+87del	NP_000457.1:n.2071+86_2071+87del
NM_001282677.1:c.1901-1451_1901-1450del	NP_001269606.1:n.1901-1451_1901-1450del
NM_001282678.1:c.1447+86_1447+87del	NP_001269607.1:n.1447+86_1447+87del
XM_005250433.3:c.322+86_322+87del	XP_005250490.1:n.322+86_322+87del
XR_242246.3:n.2167+86_2167+87del
XM_017012319.2:c.322+86_322+87del	XP_016867808.1:n.322+86_322+87del
XR_001744808.2:n.1098+86_1098+87del
XR_242246.5:n.2118+86_2118+87del
NM_000466.3:c.2071+86_2071+87del MANE Select	NP_000457.1:n.2071+86_2071+87del
NM_001282677.2:c.1901-1451_1901-1450del	NP_001269606.1:n.1901-1451_1901-1450del
NM_001282678.2:c.1447+86_1447+87del	NP_001269607.1:n.1447+86_1447+87del