Canonical Allele Identifier: CA2589490810

Gene: SLC25A1

Linked Data

• gnomAD v3: 22-19176244-T-TGCCTTGAGCCCCTCCTTCTTCAGGATCTGCAAGCCGCAGTCCCACGTGTTCCGGTATTTGTGCGCCTC
• gnomAD v4: 22-19176244-T-TGCCTTGAGCCCCTCCTTCTTCAGGATCTGCAAGCCGCAGTCCCACGTGTTCCGGTATTTGTGCGCCTC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176244_19176245insGCCTTGAGCCCCTCCTTCTTCAGGATCTGCAAGCCGCAGTCCCACGTGTTCCGGTATTTGTGCGCCTC , CM000684.2:g.19176244_19176245insGCCTTGAGCCCCTCCTTCTTCAGGATCTGCAAGCCGCAGTCCCACGTGTTCCGGTATTTGTGCGCCTC	GRCh38
NC_000022.10:g.19163757_19163758insGCCTTGAGCCCCTCCTTCTTCAGGATCTGCAAGCCGCAGTCCCACGTGTTCCGGTATTTGTGCGCCTC , CM000684.1:g.19163757_19163758insGCCTTGAGCCCCTCCTTCTTCAGGATCTGCAAGCCGCAGTCCCACGTGTTCCGGTATTTGTGCGCCTC	GRCh37
NC_000022.9:g.17543757_17543758insGCCTTGAGCCCCTCCTTCTTCAGGATCTGCAAGCCGCAGTCCCACGTGTTCCGGTATTTGTGCGCCTC	NCBI36
NG_033863.1:g.7619_7620insGAGGCGCACAAATACCGGAACACGTGGGACTGCGGCTTGCAGATCCTGAAGAAGGAGGGGCTCAAGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.822-1_822insGAGGCGCACAAATACCGGAACACGTGGGACTGCGGCTTGCAGATCCTGAAGAAGGAGGGGCTCAAGGC MANE Select	ENSP00000215882.5:n.822-1_822insGAGGCGCACAAATACCGGAACACGTGGGA...
ENST00000215882.9:c.822-1_822insGAGGCGCACAAATACCGGAACACGTGGGACTGCGGCTTGCAGATCCTGAAGAAGGAGGGGCTCAAGGC	ENSP00000215882.5:n.822-1_822insGAGGCGCACAAATACCGGAACACGTGGGA...
ENST00000451283.5:c.513-1_513insGAGGCGCACAAATACCGGAACACGTGGGACTGCGGCTTGCAGATCCTGAAGAAGGAGGGGCTCAAGGC	ENSP00000401480.1:n.513-1_513insGAGGCGCACAAATACCGGAACACGTGGGA...
ENST00000470922.5:n.964-1_964insGAGGCGCACAAATACCGGAACACGTGGGACTGCGGCTTGCAGATCCTGAAGAAGGAGGGGCTCAAGGC
NM_001256534.1:c.843-1_843insGAGGCGCACAAATACCGGAACACGTGGGACTGCGGCTTGCAGATCCTGAAGAAGGAGGGGCTCAAGGC	NP_001243463.1:n.843-1_843insGAGGCGCACAAATACCGGAACACGTGGGACTG...
NM_001287387.1:c.513-1_513insGAGGCGCACAAATACCGGAACACGTGGGACTGCGGCTTGCAGATCCTGAAGAAGGAGGGGCTCAAGGC	NP_001274316.1:n.513-1_513insGAGGCGCACAAATACCGGAACACGTGGGACTG...
NM_005984.4:c.822-1_822insGAGGCGCACAAATACCGGAACACGTGGGACTGCGGCTTGCAGATCCTGAAGAAGGAGGGGCTCAAGGC	NP_005975.1:n.822-1_822insGAGGCGCACAAATACCGGAACACGTGGGACTGCGG...
NR_046298.2:n.873-1_873insGAGGCGCACAAATACCGGAACACGTGGGACTGCGGCTTGCAGATCCTGAAGAAGGAGGGGCTCAAGGC
NM_005984.5:c.822-1_822insGAGGCGCACAAATACCGGAACACGTGGGACTGCGGCTTGCAGATCCTGAAGAAGGAGGGGCTCAAGGC MANE Select	NP_005975.1:n.822-1_822insGAGGCGCACAAATACCGGAACACGTGGGACTGCGG...
NM_001256534.2:c.843-1_843insGAGGCGCACAAATACCGGAACACGTGGGACTGCGGCTTGCAGATCCTGAAGAAGGAGGGGCTCAAGGC	NP_001243463.1:n.843-1_843insGAGGCGCACAAATACCGGAACACGTGGGACTG...
NM_001287387.2:c.513-1_513insGAGGCGCACAAATACCGGAACACGTGGGACTGCGGCTTGCAGATCCTGAAGAAGGAGGGGCTCAAGGC	NP_001274316.1:n.513-1_513insGAGGCGCACAAATACCGGAACACGTGGGACTG...
NR_046298.3:n.746-1_746insGAGGCGCACAAATACCGGAACACGTGGGACTGCGGCTTGCAGATCCTGAAGAAGGAGGGGCTCAAGGC