Canonical Allele Identifier: CA2573154578
Gene: RANGRF HGNC NCBI
SLC25A35 HGNC NCBI

Linked Data

ClinVar Variation Id: 1425505
ClinVar RCV Id: RCV001926693
dbSNP Id: rs2151608535

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8289020del , CM000679.2:g.8289020del GRCh38
NC_000017.10:g.8192338del , CM000679.1:g.8192338del GRCh37
NC_000017.9:g.8133063del NCBI36
NG_028189.1:g.5370del

Transcript Alleles

HGVS Amino-acid Change
ENST00000226105.11:c.142del (RANGRF) MANE Select ENSP00000226105.6:p.Ile48Ter
ENST00000226105.10:c.142del (RANGRF) ENSP00000226105.6:p.Ile48Ter
ENST00000380067.6:c.*596del (SLC25A35) ENSP00000369407.2:n.*596del
ENST00000407006.8:c.142del (RANGRF) ENSP00000383940.4:p.Ile48Ter
ENST00000439238.3:c.142del (RANGRF) ENSP00000413190.3:p.Ile48Ter
ENST00000578849.1:n.232del (RANGRF)
ENST00000579192.5:c.*42+554del (SLC25A35) ENSP00000462395.1:n.*42+554del
ENST00000580340.5:c.*463del (SLC25A35) ENSP00000464071.1:n.*463del
ENST00000580434.5:c.142del (RANGRF) ENSP00000462310.1:p.Ile48Ter
ENST00000580777.1:n.136del (RANGRF)
ENST00000581320.1:n.16del (SLC25A35)
ENST00000585311.5:c.*508del (SLC25A35) ENSP00000464191.1:n.*508del
NM_001177801.1:c.142del (RANGRF) NP_001171272.1:p.Ile48Ter
NM_001177802.1:c.142del (RANGRF) NP_001171273.1:p.Ile48Ter
NM_016492.4:c.142del (RANGRF) NP_057576.2:p.Ile48Ter
NM_201520.1:c.*596del (SLC25A35) NP_958928.1:n.*596del
XM_005256618.3:c.142del (RANGRF) XP_005256675.1:p.Ile48Ter
NM_001320871.1:c.*42+554del (SLC25A35) NP_001307800.1:n.*42+554del
NM_001320872.1:c.*463del (SLC25A35) NP_001307801.1:n.*463del
NM_001330127.1:c.142del (RANGRF) NP_001317056.1:p.Ile48Ter
NM_201520.2:c.*596del (SLC25A35) NP_958928.1:n.*596del
NR_135484.1:n.1920del (SLC25A35)
NM_016492.5:c.142del (RANGRF) MANE Select NP_057576.2:p.Ile48Ter
NM_001177801.2:c.142del (RANGRF) NP_001171272.1:p.Ile48Ter
NM_001177802.2:c.142del (RANGRF) NP_001171273.1:p.Ile48Ter
NM_001320871.2:c.*42+554del (SLC25A35) NP_001307800.1:n.*42+554del
NM_001330127.2:c.142del (RANGRF) NP_001317056.1:p.Ile48Ter
NM_201520.3:c.*596del (SLC25A35) NP_958928.1:n.*596del
NR_135483.2:n.2141del (SLC25A35)
NM_001320872.2:c.*463del (SLC25A35) NP_001307801.1:n.*463del
NR_135484.2:n.1977del (SLC25A35)