Canonical Allele Identifier: CA2683718676

Gene: PEX1

Linked Data

• gnomAD v4: 7-92504616-CACAACACTTAACATAACACATATATT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504618_92504643del , CM000669.2:g.92504618_92504643del	GRCh38
NC_000007.13:g.92133932_92133957del , CM000669.1:g.92133932_92133957del	GRCh37
NC_000007.12:g.91971868_91971893del	NCBI36
NG_008341.1:g.28890_28915del
NG_008341.2:g.28890_28915del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2071+90_2071+115del MANE Select	ENSP00000248633.4:n.2071+90_2071+115del
ENST00000248633.8:c.2071+90_2071+115del	ENSP00000248633.4:n.2071+90_2071+115del
ENST00000428214.5:c.1901-1447_1901-1422del	ENSP00000394413.1:n.1901-1447_1901-1422de...
ENST00000438045.5:c.1105+90_1105+115del	ENSP00000410438.1:n.1105+90_1105+115del
ENST00000484913.5:n.2110+90_2110+115del
ENST00000496420.5:n.1747+90_1747+115del
NM_000466.2:c.2071+90_2071+115del	NP_000457.1:n.2071+90_2071+115del
NM_001282677.1:c.1901-1447_1901-1422del	NP_001269606.1:n.1901-1447_1901-1422del
NM_001282678.1:c.1447+90_1447+115del	NP_001269607.1:n.1447+90_1447+115del
XM_005250433.3:c.322+90_322+115del	XP_005250490.1:n.322+90_322+115del
XR_242246.3:n.2167+90_2167+115del
XM_017012319.2:c.322+90_322+115del	XP_016867808.1:n.322+90_322+115del
XR_001744808.2:n.1098+90_1098+115del
XR_242246.5:n.2118+90_2118+115del
NM_000466.3:c.2071+90_2071+115del MANE Select	NP_000457.1:n.2071+90_2071+115del
NM_001282677.2:c.1901-1447_1901-1422del	NP_001269606.1:n.1901-1447_1901-1422del
NM_001282678.2:c.1447+90_1447+115del	NP_001269607.1:n.1447+90_1447+115del