Canonical Allele Identifier: CA16041145

Linked Data

ClinVar Variation Id: 371756
dbSNP Id: rs1057517509

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92491472_92491473del , CM000669.2:g.92491472_92491473del GRCh38
NC_000007.13:g.92120786_92120787del , CM000669.1:g.92120786_92120787del GRCh37
NC_000007.12:g.91958722_91958723del NCBI36
NG_008341.1:g.42059_42060del
NG_008341.2:g.42059_42060del

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.3237_3238del (PEX1) MANE Select ENSP00000248633.4:p.Leu1081ValfsTer7
ENST00000248633.8:c.3237_3238del (PEX1) ENSP00000248633.4:p.Leu1081ValfsTer7
ENST00000428214.5:c.3066_3067del (PEX1) ENSP00000394413.1:p.Leu1024ValfsTer7
ENST00000438045.5:c.2271_2272del (PEX1) ENSP00000410438.1:p.Leu759ValfsTer7
ENST00000484913.5:n.3276_3277del (PEX1)
ENST00000496420.5:n.4292_4293del (PEX1)
NM_000466.2:c.3237_3238del (PEX1) NP_000457.1:p.Leu1081ValfsTer7
NM_001282677.1:c.3066_3067del (PEX1) NP_001269606.1:p.Leu1024ValfsTer7
NM_001282678.1:c.2613_2614del (PEX1) NP_001269607.1:p.Leu873ValfsTer7
XM_005250433.3:c.1488_1489del (PEX1) XP_005250490.1:p.Leu498ValfsTer7
XR_242246.3:n.3333_3334del (PEX1)
XM_017012319.2:c.1488_1489del (PEX1) XP_016867808.1:p.Leu498ValfsTer7
XR_001744808.2:n.2264_2265del (PEX1)
XR_001744842.2:n.2510_2511del (GATAD1)
XR_001744843.2:n.2441_2442del (GATAD1)
XR_002956472.1:n.2567_2568del (GATAD1)
XR_002956473.1:n.2598_2599del (GATAD1)
XR_002956474.1:n.2515_2516del (GATAD1)
XR_242246.5:n.3284_3285del (PEX1)
XR_927494.3:n.1292_1293del (GATAD1)
XR_927500.3:n.1289_1290del (GATAD1)
XR_927503.3:n.1223_1224del (GATAD1)
NM_000466.3:c.3237_3238del (PEX1) MANE Select NP_000457.1:p.Leu1081ValfsTer7
NM_001282677.2:c.3066_3067del (PEX1) NP_001269606.1:p.Leu1024ValfsTer7
NM_001282678.2:c.2613_2614del (PEX1) NP_001269607.1:p.Leu873ValfsTer7