Canonical Allele Identifier: CA2580094928
Gene: RANGRF HGNC NCBI
SLC25A35 HGNC NCBI

Linked Data

ClinVar Variation Id: 1916026
ClinVar RCV Id: RCV002594275

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8289040_8289041delinsAT , CM000679.2:g.8289040_8289041delinsAT GRCh38
NC_000017.10:g.8192358_8192359delinsAT , CM000679.1:g.8192358_8192359delinsAT GRCh37
NC_000017.9:g.8133083_8133084delinsAT NCBI36
NG_028189.1:g.5390_5391delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000226105.11:c.162_163delinsAT (RANGRF) MANE Select ENSP00000226105.6:p.Leu55Ter
ENST00000226105.10:c.162_163delinsAT (RANGRF) ENSP00000226105.6:p.Leu55Ter
ENST00000380067.6:c.*575_*576delinsAT (SLC25A35) ENSP00000369407.2:n.*575_*576delinsAT
ENST00000407006.8:c.162_163delinsAT (RANGRF) ENSP00000383940.4:p.Leu55Ter
ENST00000439238.3:c.162_163delinsAT (RANGRF) ENSP00000413190.3:p.Leu55Ter
ENST00000578849.1:n.252_253delinsAT (RANGRF)
ENST00000579192.5:c.*42+533_*42+534delinsAT (SLC25A35) ENSP00000462395.1:n.*42+533_*42+534delinsAT
ENST00000580340.5:c.*442_*443delinsAT (SLC25A35) ENSP00000464071.1:n.*442_*443delinsAT
ENST00000580434.5:c.162_163delinsAT (RANGRF) ENSP00000462310.1:p.Leu55Ter
ENST00000580777.1:n.156_157delinsAT (RANGRF)
ENST00000585311.5:c.*487_*488delinsAT (SLC25A35) ENSP00000464191.1:n.*487_*488delinsAT
NM_001177801.1:c.162_163delinsAT (RANGRF) NP_001171272.1:p.Leu55Ter
NM_001177802.1:c.162_163delinsAT (RANGRF) NP_001171273.1:p.Leu55Ter
NM_016492.4:c.162_163delinsAT (RANGRF) NP_057576.2:p.Leu55Ter
NM_201520.1:c.*575_*576delinsAT (SLC25A35) NP_958928.1:n.*575_*576delinsAT
XM_005256618.3:c.162_163delinsAT (RANGRF) XP_005256675.1:p.Leu55Ter
NM_001320871.1:c.*42+533_*42+534delinsAT (SLC25A35) NP_001307800.1:n.*42+533_*42+534delinsAT
NM_001320872.1:c.*442_*443delinsAT (SLC25A35) NP_001307801.1:n.*442_*443delinsAT
NM_001330127.1:c.162_163delinsAT (RANGRF) NP_001317056.1:p.Leu55Ter
NM_201520.2:c.*575_*576delinsAT (SLC25A35) NP_958928.1:n.*575_*576delinsAT
NR_135484.1:n.1899_1900delinsAT (SLC25A35)
NM_016492.5:c.162_163delinsAT (RANGRF) MANE Select NP_057576.2:p.Leu55Ter
NM_001177801.2:c.162_163delinsAT (RANGRF) NP_001171272.1:p.Leu55Ter
NM_001177802.2:c.162_163delinsAT (RANGRF) NP_001171273.1:p.Leu55Ter
NM_001320871.2:c.*42+533_*42+534delinsAT (SLC25A35) NP_001307800.1:n.*42+533_*42+534delinsAT
NM_001330127.2:c.162_163delinsAT (RANGRF) NP_001317056.1:p.Leu55Ter
NM_201520.3:c.*575_*576delinsAT (SLC25A35) NP_958928.1:n.*575_*576delinsAT
NR_135483.2:n.2120_2121delinsAT (SLC25A35)
NM_001320872.2:c.*442_*443delinsAT (SLC25A35) NP_001307801.1:n.*442_*443delinsAT
NR_135484.2:n.1956_1957delinsAT (SLC25A35)