Canonical Allele Identifier: CA2589490467

Gene: SLC25A1

Linked Data

• dbSNP Id: rs2146142995
• gnomAD v3: 22-19176695-T-TCGGTACCAGTTGCGCAGGGAGGTCATGACGAAGAAGC
• gnomAD v4: 22-19176695-T-TCGGTACCAGTTGCGCAGGGAGGTCATGACGAAGAAGC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176695_19176696insCGGTACCAGTTGCGCAGGGAGGTCATGACGAAGAAGC , CM000684.2:g.19176695_19176696insCGGTACCAGTTGCGCAGGGAGGTCATGACGAAGAAGC	GRCh38
NC_000022.10:g.19164208_19164209insCGGTACCAGTTGCGCAGGGAGGTCATGACGAAGAAGC , CM000684.1:g.19164208_19164209insCGGTACCAGTTGCGCAGGGAGGTCATGACGAAGAAGC	GRCh37
NC_000022.9:g.17544208_17544209insCGGTACCAGTTGCGCAGGGAGGTCATGACGAAGAAGC	NCBI36
NG_033863.1:g.7168_7169insGCTTCTTCGTCATGACCTCCCTGCGCAACTGGTACCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.632-3_632-2insGCTTCTTCGTCATGACCTCCCTGCGCAACTGGTACCG MANE Select	ENSP00000215882.5:n.632-3_632-2insGCTTCTTCGTCATGACCTCCCTGCGCA...
ENST00000215882.9:c.632-3_632-2insGCTTCTTCGTCATGACCTCCCTGCGCAACTGGTACCG	ENSP00000215882.5:n.632-3_632-2insGCTTCTTCGTCATGACCTCCCTGCGCA...
ENST00000451283.5:c.323-3_323-2insGCTTCTTCGTCATGACCTCCCTGCGCAACTGGTACCG	ENSP00000401480.1:n.323-3_323-2insGCTTCTTCGTCATGACCTCCCTGCGCA...
ENST00000461267.1:n.778-3_778-2insGCTTCTTCGTCATGACCTCCCTGCGCAACTGGTACCG
ENST00000470922.5:n.774-3_774-2insGCTTCTTCGTCATGACCTCCCTGCGCAACTGGTACCG
NM_001256534.1:c.653-3_653-2insGCTTCTTCGTCATGACCTCCCTGCGCAACTGGTACCG	NP_001243463.1:n.653-3_653-2insGCTTCTTCGTCATGACCTCCCTGCGCAACT...
NM_001287387.1:c.323-3_323-2insGCTTCTTCGTCATGACCTCCCTGCGCAACTGGTACCG	NP_001274316.1:n.323-3_323-2insGCTTCTTCGTCATGACCTCCCTGCGCAACT...
NM_005984.4:c.632-3_632-2insGCTTCTTCGTCATGACCTCCCTGCGCAACTGGTACCG	NP_005975.1:n.632-3_632-2insGCTTCTTCGTCATGACCTCCCTGCGCAACTGGT...
NR_046298.2:n.683-3_683-2insGCTTCTTCGTCATGACCTCCCTGCGCAACTGGTACCG
NM_005984.5:c.632-3_632-2insGCTTCTTCGTCATGACCTCCCTGCGCAACTGGTACCG MANE Select	NP_005975.1:n.632-3_632-2insGCTTCTTCGTCATGACCTCCCTGCGCAACTGGT...
NM_001256534.2:c.653-3_653-2insGCTTCTTCGTCATGACCTCCCTGCGCAACTGGTACCG	NP_001243463.1:n.653-3_653-2insGCTTCTTCGTCATGACCTCCCTGCGCAACT...
NM_001287387.2:c.323-3_323-2insGCTTCTTCGTCATGACCTCCCTGCGCAACTGGTACCG	NP_001274316.1:n.323-3_323-2insGCTTCTTCGTCATGACCTCCCTGCGCAACT...
NR_046298.3:n.556-3_556-2insGCTTCTTCGTCATGACCTCCCTGCGCAACTGGTACCG