Canonical Allele Identifier: CA2573146984
Gene: SLC37A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1454284
ClinVar RCV Id: RCV001939454
dbSNP Id: rs2134637643

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119027723_119027726del , CM000673.2:g.119027723_119027726del GRCh38
NC_000011.9:g.118898433_118898436del , CM000673.1:g.118898433_118898436del GRCh37
NC_000011.8:g.118403643_118403646del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000529510.6:n.758_761del
ENST00000697845.1:n.682_685del
ENST00000697846.1:n.758_761del
ENST00000697847.1:n.758_761del
ENST00000697848.1:n.758_761del
ENST00000697849.1:n.1797_1800del
ENST00000697850.1:n.758_761del
ENST00000697851.1:n.2118_2121del
ENST00000638186.1:n.832_835del
ENST00000638360.1:n.664_667del
ENST00000638925.1:n.765_768del
ENST00000650539.1:n.934_937del
ENST00000330775.9:c.529-1_531del
ENST00000357590.9:c.529-1_531del
ENST00000524428.5:n.850_853del
ENST00000525039.5:n.952_955del
ENST00000525102.5:n.1286_1289del
ENST00000525372.5:n.529_532del
ENST00000526275.5:n.1310_1313del
ENST00000526626.6:n.491_494del
ENST00000527992.5:n.756_759del
ENST00000529510.5:n.399+469_399+472del
ENST00000530407.5:n.678_681del
ENST00000532085.1:n.3139_3142del
ENST00000532888.6:n.824_827del
ENST00000538950.5:c.310-1_312del
ENST00000545985.5:c.529-1_531del