Canonical Allele Identifier: CA1104707175

Gene: SLC25A13

Linked Data

• dbSNP Id: rs1794763319
• gnomAD v3: 7-96189496-CTTCT-C
• gnomAD v4: 7-96189496-CTTCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96189499_96189502del , CM000669.2:g.96189499_96189502del	GRCh38
NC_000007.13:g.95818811_95818814del , CM000669.1:g.95818811_95818814del	GRCh37
NC_000007.12:g.95656747_95656750del	NCBI36
NG_012247.1:g.137648_137651del
NG_012247.2:g.137648_137651del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.848+81_848+84del MANE Select	ENSP00000265631.6:n.848+81_848+84del
ENST00000265631.9:c.848+81_848+84del	ENSP00000265631.5:n.848+81_848+84del
ENST00000416240.6:c.848+81_848+84del	ENSP00000400101.2:n.848+81_848+84del
NM_001160210.1:c.848+81_848+84del	NP_001153682.1:n.848+81_848+84del
NM_014251.2:c.848+81_848+84del	NP_055066.1:n.848+81_848+84del
NR_027662.1:n.923+81_923+84del
XM_006715831.2:c.881+81_881+84del	XP_006715894.1:n.881+81_881+84del
XM_011515727.1:c.881+81_881+84del	XP_011514029.1:n.881+81_881+84del
XM_011515728.1:c.-4-122_-4-119del	XP_011514030.1:n.-4-122_-4-119del
XM_006715831.4:c.881+81_881+84del	XP_006715894.1:n.881+81_881+84del
XM_011515727.3:c.881+81_881+84del	XP_011514029.1:n.881+81_881+84del
XM_017011663.1:c.839+81_839+84del	XP_016867152.1:n.839+81_839+84del
XM_017011664.2:c.-4-122_-4-119del	XP_016867153.1:n.-4-122_-4-119del
XM_017011665.1:c.-4-122_-4-119del	XP_016867154.1:n.-4-122_-4-119del
XR_001744525.2:n.1019+81_1019+84del
XR_002956405.1:n.1161+81_1161+84del
NM_014251.3:c.848+81_848+84del MANE Select	NP_055066.1:n.848+81_848+84del
NR_027662.2:n.874+81_874+84del
NM_001160210.2:c.848+81_848+84del	NP_001153682.1:n.848+81_848+84del