Canonical Allele Identifier: CA8374361

Gene: RANGRF SLC25A35

Linked Data

• dbSNP Id: rs753655214
• ExAC: 17:8192441 T / TGGGCG
• gnomAD v3: 17-8289123-T-TGGGCG
• gnomAD v4: 17-8289123-T-TGGGCG
• MyVariant Identifiers: chr17:g.8192441_8192442insGGGCG (hg19) ; chr17:g.8289123_8289124insGGGCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8289128_8289132dup , CM000679.2:g.8289128_8289132dup	GRCh38
NC_000017.10:g.8192446_8192450dup , CM000679.1:g.8192446_8192450dup	GRCh37
NC_000017.9:g.8133171_8133175dup	NCBI36
NG_028189.1:g.5478_5482dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226105.11:c.194+56_194+60dup (RANGRF) MANE Select	ENSP00000226105.6:n.194+56_194+60dup
ENST00000226105.10:c.194+56_194+60dup (RANGRF)	ENSP00000226105.6:n.194+56_194+60dup
ENST00000380067.6:c.*488_*492dup (SLC25A35)	ENSP00000369407.2:n.*488_*492dup
ENST00000407006.8:c.194+56_194+60dup (RANGRF)	ENSP00000383940.4:n.194+56_194+60dup
ENST00000439238.3:c.194+56_194+60dup (RANGRF)	ENSP00000413190.3:n.194+56_194+60dup
ENST00000578849.1:n.340_344dup (RANGRF)
ENST00000579192.5:c.*42+446_*42+450dup (SLC25A35)	ENSP00000462395.1:n.*42+446_*42+450dup
ENST00000580340.5:c.*355_*359dup (SLC25A35)	ENSP00000464071.1:n.*355_*359dup
ENST00000580434.5:c.194+56_194+60dup (RANGRF)	ENSP00000462310.1:n.194+56_194+60dup
ENST00000580777.1:n.188+56_188+60dup (RANGRF)
ENST00000585311.5:c.*400_*404dup (SLC25A35)	ENSP00000464191.1:n.*400_*404dup
NM_001177801.1:c.194+56_194+60dup (RANGRF)	NP_001171272.1:n.194+56_194+60dup
NM_001177802.1:c.194+56_194+60dup (RANGRF)	NP_001171273.1:n.194+56_194+60dup
NM_016492.4:c.194+56_194+60dup (RANGRF)	NP_057576.2:n.194+56_194+60dup
NM_201520.1:c.*488_*492dup (SLC25A35)	NP_958928.1:n.*488_*492dup
XM_005256618.3:c.194+56_194+60dup (RANGRF)	XP_005256675.1:n.194+56_194+60dup
NM_001320871.1:c.*42+446_*42+450dup (SLC25A35)	NP_001307800.1:n.*42+446_*42+450dup
NM_001320872.1:c.*355_*359dup (SLC25A35)	NP_001307801.1:n.*355_*359dup
NM_001330127.1:c.194+56_194+60dup (RANGRF)	NP_001317056.1:n.194+56_194+60dup
NM_201520.2:c.*488_*492dup (SLC25A35)	NP_958928.1:n.*488_*492dup
NR_135484.1:n.1812_1816dup (SLC25A35)
NM_016492.5:c.194+56_194+60dup (RANGRF) MANE Select	NP_057576.2:n.194+56_194+60dup
NM_001177801.2:c.194+56_194+60dup (RANGRF)	NP_001171272.1:n.194+56_194+60dup
NM_001177802.2:c.194+56_194+60dup (RANGRF)	NP_001171273.1:n.194+56_194+60dup
NM_001320871.2:c.*42+446_*42+450dup (SLC25A35)	NP_001307800.1:n.*42+446_*42+450dup
NM_001330127.2:c.194+56_194+60dup (RANGRF)	NP_001317056.1:n.194+56_194+60dup
NM_201520.3:c.*488_*492dup (SLC25A35)	NP_958928.1:n.*488_*492dup
NR_135483.2:n.2033_2037dup (SLC25A35)
NM_001320872.2:c.*355_*359dup (SLC25A35)	NP_001307801.1:n.*355_*359dup
NR_135484.2:n.1869_1873dup (SLC25A35)