Canonical Allele Identifier: CA10097281
Gene: SLC25A1 HGNC NCBI

Linked Data

dbSNP Id: rs782489989
ExAC: 22:19163947 CCTT / C
gnomAD v2: 22-19163947-CCTT-C
gnomAD v3: 22-19176434-CCTT-C
gnomAD v4: 22-19176434-CCTT-C
COSMIC: COSM1414861
MyVariant Identifiers: chr22:g.19163948_19163950del (hg19) chr22:g.19176436_19176438del (hg38) chr22:g.19176435_19176437del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19176439_19176441del , CM000684.2:g.19176439_19176441del GRCh38
NC_000022.10:g.19163952_19163954del , CM000684.1:g.19163952_19163954del GRCh37
NC_000022.9:g.17543952_17543954del NCBI36
NG_033863.1:g.7427_7429del

Transcript Alleles

HGVS Amino-acid Change
ENST00000215882.10:c.805_807del MANE Select ENSP00000215882.5:p.Lys269del
ENST00000215882.9:c.805_807del ENSP00000215882.5:p.Lys269del
ENST00000451283.5:c.496_498del ENSP00000401480.1:p.Lys166del
ENST00000470922.5:n.947_949del
NM_001256534.1:c.826_828del NP_001243463.1:p.Lys276del
NM_001287387.1:c.496_498del NP_001274316.1:p.Lys166del
NM_005984.4:c.805_807del NP_005975.1:p.Lys269del
NR_046298.2:n.856_858del
NM_005984.5:c.805_807del MANE Select NP_005975.1:p.Lys269del
NM_001256534.2:c.826_828del NP_001243463.1:p.Lys276del
NM_001287387.2:c.496_498del NP_001274316.1:p.Lys166del
NR_046298.3:n.729_731del
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