Canonical Allele Identifier: CA1104707369

Gene: SLC25A13

Linked Data

• gnomAD v3: 7-96189552-C-CAAAAAAAAAAAAAAAAAAAACAAAAAAAAA
• gnomAD v4: 7-96189552-C-CAAAAAAAAAAAAAAAAAAAACAAAAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96189570_96189571insAACAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000669.2:g.96189570_96189571insAACAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh38
NC_000007.13:g.95818882_95818883insAACAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000669.1:g.95818882_95818883insAACAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh37
NC_000007.12:g.95656818_95656819insAACAAAAAAAAAAAAAAAAAAAAAAAAAAA	NCBI36
NG_012247.1:g.137595_137596insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT
NG_012247.2:g.137595_137596insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.848+28_848+29insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT MANE Select	ENSP00000265631.6:n.848+28_848+29insTTTTTTTTTGTTTTTTTTTTTTTTT...
ENST00000265631.9:c.848+28_848+29insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT	ENSP00000265631.5:n.848+28_848+29insTTTTTTTTTGTTTTTTTTTTTTTTT...
ENST00000416240.6:c.848+28_848+29insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT	ENSP00000400101.2:n.848+28_848+29insTTTTTTTTTGTTTTTTTTTTTTTTT...
NM_001160210.1:c.848+28_848+29insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT	NP_001153682.1:n.848+28_848+29insTTTTTTTTTGTTTTTTTTTTTTTTTTTT...
NM_014251.2:c.848+28_848+29insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT	NP_055066.1:n.848+28_848+29insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT
NR_027662.1:n.923+28_923+29insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT
XM_006715831.2:c.881+28_881+29insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT	XP_006715894.1:n.881+28_881+29insTTTTTTTTTGTTTTTTTTTTTTTTTTTT...
XM_011515727.1:c.881+28_881+29insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT	XP_011514029.1:n.881+28_881+29insTTTTTTTTTGTTTTTTTTTTTTTTTTTT...
XM_011515728.1:c.-4-175_-4-174insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT	XP_011514030.1:n.-4-175_-4-174insTTTTTTTTTGTTTTTTTTTTTTTTTTTT...
XM_006715831.4:c.881+28_881+29insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT	XP_006715894.1:n.881+28_881+29insTTTTTTTTTGTTTTTTTTTTTTTTTTTT...
XM_011515727.3:c.881+28_881+29insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT	XP_011514029.1:n.881+28_881+29insTTTTTTTTTGTTTTTTTTTTTTTTTTTT...
XM_017011663.1:c.839+28_839+29insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT	XP_016867152.1:n.839+28_839+29insTTTTTTTTTGTTTTTTTTTTTTTTTTTT...
XM_017011664.2:c.-4-175_-4-174insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT	XP_016867153.1:n.-4-175_-4-174insTTTTTTTTTGTTTTTTTTTTTTTTTTTT...
XM_017011665.1:c.-4-175_-4-174insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT	XP_016867154.1:n.-4-175_-4-174insTTTTTTTTTGTTTTTTTTTTTTTTTTTT...
XR_001744525.2:n.1019+28_1019+29insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT
XR_002956405.1:n.1161+28_1161+29insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT
NM_014251.3:c.848+28_848+29insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT MANE Select	NP_055066.1:n.848+28_848+29insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT
NR_027662.2:n.874+28_874+29insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT
NM_001160210.2:c.848+28_848+29insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT	NP_001153682.1:n.848+28_848+29insTTTTTTTTTGTTTTTTTTTTTTTTTTTT...