Canonical Allele Identifier: CA16621035
Gene: SLC25A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 420910
ClinVar RCV Id: RCV000481788
dbSNP Id: rs1064794784

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19176660_19176668delinsGAGGTC , CM000684.2:g.19176660_19176668delinsGAGGTC GRCh38
NC_000022.10:g.19164173_19164181delinsGAGGTC , CM000684.1:g.19164173_19164181delinsGAGGTC GRCh37
NC_000022.9:g.17544173_17544181delinsGAGGTC NCBI36
NG_033863.1:g.7196_7204delinsGACCTC

Transcript Alleles

HGVS Amino-acid change
ENST00000215882.10:c.657_665delinsGACCTC MANE Select ENSP00000215882.5:p.Asn219_Ile222delinsLy...
ENST00000215882.9:c.657_665delinsGACCTC ENSP00000215882.5:p.Asn219_Ile222delinsLy...
ENST00000451283.5:c.348_356delinsGACCTC ENSP00000401480.1:p.Asn116_Ile119delinsLy...
ENST00000470922.5:n.799_807delinsGACCTC
NM_001256534.1:c.678_686delinsGACCTC NP_001243463.1:p.Asn226_Ile229delinsLysTh...
NM_001287387.1:c.348_356delinsGACCTC NP_001274316.1:p.Asn116_Ile119delinsLysTh...
NM_005984.4:c.657_665delinsGACCTC NP_005975.1:p.Asn219_Ile222delinsLysThrSe...
NR_046298.2:n.708_716delinsGACCTC
NM_005984.5:c.657_665delinsGACCTC MANE Select NP_005975.1:p.Asn219_Ile222delinsLysThrSe...
NM_001256534.2:c.678_686delinsGACCTC NP_001243463.1:p.Asn226_Ile229delinsLysTh...
NM_001287387.2:c.348_356delinsGACCTC NP_001274316.1:p.Asn116_Ile119delinsLysTh...
NR_046298.3:n.581_589delinsGACCTC