Canonical Allele Identifier: CA2683825557

Gene: SLC25A13

Linked Data

• gnomAD v4: 7-96189553-A-AAAAAAAAAAAAAAAAAAACAACAAAAACCCTAAACAAAAAAAAAAAAAAAAAAAAAAAAAACCACCCTTTGGAAAAAAAAAAAAAAAAAC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96189570_96189571insACAACAAAAACCCTAAACAAAAAAAAAAAAAAAAAAAAAAAAAACCACCCTTTGGAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAA , CM000669.2:g.96189570_96189571insACAACAAAAACCCTAAACAAAAAAAAAAAAAAAAAAAAAAAAAACCACCCTTTGGAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAA	GRCh38
NC_000007.13:g.95818882_95818883insACAACAAAAACCCTAAACAAAAAAAAAAAAAAAAAAAAAAAAAACCACCCTTTGGAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAA , CM000669.1:g.95818882_95818883insACAACAAAAACCCTAAACAAAAAAAAAAAAAAAAAAAAAAAAAACCACCCTTTGGAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAA	GRCh37
NC_000007.12:g.95656818_95656819insACAACAAAAACCCTAAACAAAAAAAAAAAAAAAAAAAAAAAAAACCACCCTTTGGAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAA	NCBI36
NG_012247.1:g.137594_137595insGTTTTTTTTTTTTTTTTTCCAAAGGGTGGTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTAGGGTTTTTGTTGTTTTTTTTTTTTTTTTTT
NG_012247.2:g.137594_137595insGTTTTTTTTTTTTTTTTTCCAAAGGGTGGTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTAGGGTTTTTGTTGTTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.848+27_848+28insGTTTTTTTTTTTTTTTTTCCAAAGGGTGGTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTAGGGTTTTTGTTGTTTTTTTTTTTTTTTTTT MANE Select	ENSP00000265631.6:n.848+27_848+28insGTTTTTTTTTTTTTTTTTCCAAAGG...
ENST00000265631.9:c.848+27_848+28insGTTTTTTTTTTTTTTTTTCCAAAGGGTGGTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTAGGGTTTTTGTTGTTTTTTTTTTTTTTTTTT	ENSP00000265631.5:n.848+27_848+28insGTTTTTTTTTTTTTTTTTCCAAAGG...
ENST00000416240.6:c.848+27_848+28insGTTTTTTTTTTTTTTTTTCCAAAGGGTGGTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTAGGGTTTTTGTTGTTTTTTTTTTTTTTTTTT	ENSP00000400101.2:n.848+27_848+28insGTTTTTTTTTTTTTTTTTCCAAAGG...
NM_001160210.1:c.848+27_848+28insGTTTTTTTTTTTTTTTTTCCAAAGGGTGGTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTAGGGTTTTTGTTGTTTTTTTTTTTTTTTTTT	NP_001153682.1:n.848+27_848+28insGTTTTTTTTTTTTTTTTTCCAAAGGGTG...
NM_014251.2:c.848+27_848+28insGTTTTTTTTTTTTTTTTTCCAAAGGGTGGTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTAGGGTTTTTGTTGTTTTTTTTTTTTTTTTTT	NP_055066.1:n.848+27_848+28insGTTTTTTTTTTTTTTTTTCCAAAGGGTGGTT...
NR_027662.1:n.923+27_923+28insGTTTTTTTTTTTTTTTTTCCAAAGGGTGGTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTAGGGTTTTTGTTGTTTTTTTTTTTTTTTTTT
XM_006715831.2:c.881+27_881+28insGTTTTTTTTTTTTTTTTTCCAAAGGGTGGTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTAGGGTTTTTGTTGTTTTTTTTTTTTTTTTTT	XP_006715894.1:n.881+27_881+28insGTTTTTTTTTTTTTTTTTCCAAAGGGTG...
XM_011515727.1:c.881+27_881+28insGTTTTTTTTTTTTTTTTTCCAAAGGGTGGTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTAGGGTTTTTGTTGTTTTTTTTTTTTTTTTTT	XP_011514029.1:n.881+27_881+28insGTTTTTTTTTTTTTTTTTCCAAAGGGTG...
XM_011515728.1:c.-4-176_-4-175insGTTTTTTTTTTTTTTTTTCCAAAGGGTGGTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTAGGGTTTTTGTTGTTTTTTTTTTTTTTTTTT	XP_011514030.1:n.-4-176_-4-175insGTTTTTTTTTTTTTTTTTCCAAAGGGTG...
XM_006715831.4:c.881+27_881+28insGTTTTTTTTTTTTTTTTTCCAAAGGGTGGTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTAGGGTTTTTGTTGTTTTTTTTTTTTTTTTTT	XP_006715894.1:n.881+27_881+28insGTTTTTTTTTTTTTTTTTCCAAAGGGTG...
XM_011515727.3:c.881+27_881+28insGTTTTTTTTTTTTTTTTTCCAAAGGGTGGTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTAGGGTTTTTGTTGTTTTTTTTTTTTTTTTTT	XP_011514029.1:n.881+27_881+28insGTTTTTTTTTTTTTTTTTCCAAAGGGTG...
XM_017011663.1:c.839+27_839+28insGTTTTTTTTTTTTTTTTTCCAAAGGGTGGTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTAGGGTTTTTGTTGTTTTTTTTTTTTTTTTTT	XP_016867152.1:n.839+27_839+28insGTTTTTTTTTTTTTTTTTCCAAAGGGTG...
XM_017011664.2:c.-4-176_-4-175insGTTTTTTTTTTTTTTTTTCCAAAGGGTGGTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTAGGGTTTTTGTTGTTTTTTTTTTTTTTTTTT	XP_016867153.1:n.-4-176_-4-175insGTTTTTTTTTTTTTTTTTCCAAAGGGTG...
XM_017011665.1:c.-4-176_-4-175insGTTTTTTTTTTTTTTTTTCCAAAGGGTGGTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTAGGGTTTTTGTTGTTTTTTTTTTTTTTTTTT	XP_016867154.1:n.-4-176_-4-175insGTTTTTTTTTTTTTTTTTCCAAAGGGTG...
XR_001744525.2:n.1019+27_1019+28insGTTTTTTTTTTTTTTTTTCCAAAGGGTGGTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTAGGGTTTTTGTTGTTTTTTTTTTTTTTTTTT
XR_002956405.1:n.1161+27_1161+28insGTTTTTTTTTTTTTTTTTCCAAAGGGTGGTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTAGGGTTTTTGTTGTTTTTTTTTTTTTTTTTT
NM_014251.3:c.848+27_848+28insGTTTTTTTTTTTTTTTTTCCAAAGGGTGGTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTAGGGTTTTTGTTGTTTTTTTTTTTTTTTTTT MANE Select	NP_055066.1:n.848+27_848+28insGTTTTTTTTTTTTTTTTTCCAAAGGGTGGTT...
NR_027662.2:n.874+27_874+28insGTTTTTTTTTTTTTTTTTCCAAAGGGTGGTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTAGGGTTTTTGTTGTTTTTTTTTTTTTTTTTT
NM_001160210.2:c.848+27_848+28insGTTTTTTTTTTTTTTTTTCCAAAGGGTGGTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTAGGGTTTTTGTTGTTTTTTTTTTTTTTTTTT	NP_001153682.1:n.848+27_848+28insGTTTTTTTTTTTTTTTTTCCAAAGGGTG...