Canonical Allele Identifier: CA2655261452
Gene: SLC25A1 HGNC NCBI

Linked Data

gnomAD v4: 22-19176546-C-CCCCCTTCCCCT
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19176556_19176566dup , CM000684.2:g.19176556_19176566dup GRCh38
NC_000022.10:g.19164069_19164079dup , CM000684.1:g.19164069_19164079dup GRCh37
NC_000022.9:g.17544069_17544079dup NCBI36
NG_033863.1:g.7307_7317dup

Transcript Alleles

HGVS Amino-acid change
ENST00000215882.10:c.747+21_747+31dup MANE Select ENSP00000215882.5:n.747+21_747+31dup
ENST00000215882.9:c.747+21_747+31dup ENSP00000215882.5:n.747+21_747+31dup
ENST00000451283.5:c.438+21_438+31dup ENSP00000401480.1:n.438+21_438+31dup
ENST00000470922.5:n.889+21_889+31dup
NM_001256534.1:c.768+21_768+31dup NP_001243463.1:n.768+21_768+31dup
NM_001287387.1:c.438+21_438+31dup NP_001274316.1:n.438+21_438+31dup
NM_005984.4:c.747+21_747+31dup NP_005975.1:n.747+21_747+31dup
NR_046298.2:n.798+21_798+31dup
NM_005984.5:c.747+21_747+31dup MANE Select NP_005975.1:n.747+21_747+31dup
NM_001256534.2:c.768+21_768+31dup NP_001243463.1:n.768+21_768+31dup
NM_001287387.2:c.438+21_438+31dup NP_001274316.1:n.438+21_438+31dup
NR_046298.3:n.671+21_671+31dup
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