Canonical Allele Identifier: CA775789762

Gene: RANGRF SLC25A35

Linked Data

• dbSNP Id: rs1326949611
• gnomAD v4: 17-8289105-GGGGCGGGGTCGGACCAGT-G
• MyVariant Identifiers: chr17:g.8192424_8192441del (hg19) ; chr17:g.8289106_8289123del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8289114_8289131del , CM000679.2:g.8289114_8289131del	GRCh38
NC_000017.10:g.8192432_8192449del , CM000679.1:g.8192432_8192449del	GRCh37
NC_000017.9:g.8133157_8133174del	NCBI36
NG_028189.1:g.5464_5481del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226105.11:c.194+42_194+59del (RANGRF) MANE Select	ENSP00000226105.6:n.194+42_194+59del
ENST00000226105.10:c.194+42_194+59del (RANGRF)	ENSP00000226105.6:n.194+42_194+59del
ENST00000380067.6:c.*493_*510del (SLC25A35)	ENSP00000369407.2:n.*493_*510del
ENST00000407006.8:c.194+42_194+59del (RANGRF)	ENSP00000383940.4:n.194+42_194+59del
ENST00000439238.3:c.194+42_194+59del (RANGRF)	ENSP00000413190.3:n.194+42_194+59del
ENST00000578849.1:n.326_343del (RANGRF)
ENST00000579192.5:c.*42+451_*42+468del (SLC25A35)	ENSP00000462395.1:n.*42+451_*42+468del
ENST00000580340.5:c.*360_*377del (SLC25A35)	ENSP00000464071.1:n.*360_*377del
ENST00000580434.5:c.194+42_194+59del (RANGRF)	ENSP00000462310.1:n.194+42_194+59del
ENST00000580777.1:n.188+42_188+59del (RANGRF)
ENST00000585311.5:c.*405_*422del (SLC25A35)	ENSP00000464191.1:n.*405_*422del
NM_001177801.1:c.194+42_194+59del (RANGRF)	NP_001171272.1:n.194+42_194+59del
NM_001177802.1:c.194+42_194+59del (RANGRF)	NP_001171273.1:n.194+42_194+59del
NM_016492.4:c.194+42_194+59del (RANGRF)	NP_057576.2:n.194+42_194+59del
NM_201520.1:c.*493_*510del (SLC25A35)	NP_958928.1:n.*493_*510del
XM_005256618.3:c.194+42_194+59del (RANGRF)	XP_005256675.1:n.194+42_194+59del
NM_001320871.1:c.*42+451_*42+468del (SLC25A35)	NP_001307800.1:n.*42+451_*42+468del
NM_001320872.1:c.*360_*377del (SLC25A35)	NP_001307801.1:n.*360_*377del
NM_001330127.1:c.194+42_194+59del (RANGRF)	NP_001317056.1:n.194+42_194+59del
NM_201520.2:c.*493_*510del (SLC25A35)	NP_958928.1:n.*493_*510del
NR_135484.1:n.1817_1834del (SLC25A35)
NM_016492.5:c.194+42_194+59del (RANGRF) MANE Select	NP_057576.2:n.194+42_194+59del
NM_001177801.2:c.194+42_194+59del (RANGRF)	NP_001171272.1:n.194+42_194+59del
NM_001177802.2:c.194+42_194+59del (RANGRF)	NP_001171273.1:n.194+42_194+59del
NM_001320871.2:c.*42+451_*42+468del (SLC25A35)	NP_001307800.1:n.*42+451_*42+468del
NM_001330127.2:c.194+42_194+59del (RANGRF)	NP_001317056.1:n.194+42_194+59del
NM_201520.3:c.*493_*510del (SLC25A35)	NP_958928.1:n.*493_*510del
NR_135483.2:n.2038_2055del (SLC25A35)
NM_001320872.2:c.*360_*377del (SLC25A35)	NP_001307801.1:n.*360_*377del
NR_135484.2:n.1874_1891del (SLC25A35)