Canonical Allele Identifier: CA2695199585

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 2678839
• ClinVar RCV Id: RCV003472815

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96184277_96184280delinsA , CM000669.2:g.96184277_96184280delinsA	GRCh38
NC_000007.13:g.95813589_95813592delinsA , CM000669.1:g.95813589_95813592delinsA	GRCh37
NC_000007.12:g.95651525_95651528delinsA	NCBI36
NG_012247.1:g.142868_142871delinsT
NG_012247.2:g.142868_142871delinsT

Transcript Alleles

HGVS	Amino-acid change
ENST00000265631.10:c.1174_1177delinsT MANE Select	ENSP00000265631.6:p.Arg392_Gly393delinsCy...
ENST00000265631.9:c.1174_1177delinsT	ENSP00000265631.5:p.Arg392_Gly393delinsCy...
ENST00000416240.6:c.1177_1180delinsT	ENSP00000400101.2:p.Arg393_Gly394delinsCy...
ENST00000484495.5:n.327_330delinsT
ENST00000490072.5:n.241_244delinsT
ENST00000492869.1:n.295_298delinsT
NM_001160210.1:c.1177_1180delinsT	NP_001153682.1:p.Arg393_Gly394delinsCys
NM_014251.2:c.1174_1177delinsT	NP_055066.1:p.Arg392_Gly393delinsCys
NR_027662.1:n.1249_1252delinsT
XM_006715831.2:c.1207_1210delinsT	XP_006715894.1:p.Arg403_Gly404delinsCys
XM_011515727.1:c.1207_1210delinsT	XP_011514029.1:p.Arg403_Gly404delinsCys
XM_011515728.1:c.322_325delinsT	XP_011514030.1:p.Arg108_Gly109delinsCys
XM_006715831.4:c.1207_1210delinsT	XP_006715894.1:p.Arg403_Gly404delinsCys
XM_011515727.3:c.1207_1210delinsT	XP_011514029.1:p.Arg403_Gly404delinsCys
XM_017011663.1:c.1165_1168delinsT	XP_016867152.1:p.Arg389_Gly390delinsCys
XM_017011664.2:c.322_325delinsT	XP_016867153.1:p.Arg108_Gly109delinsCys
XM_017011665.1:c.322_325delinsT	XP_016867154.1:p.Arg108_Gly109delinsCys
XR_001744525.2:n.1345_1348delinsT
XR_002956405.1:n.1978_1981delinsT
NM_014251.3:c.1174_1177delinsT MANE Select	NP_055066.1:p.Arg392_Gly393delinsCys
NR_027662.2:n.1200_1203delinsT
NM_001160210.2:c.1177_1180delinsT	NP_001153682.1:p.Arg393_Gly394delinsCys