Canonical Allele Identifier: CA2616335920
Gene: SLC37A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119027871del , CM000673.2:g.119027871del GRCh38
NC_000011.9:g.118898581del , CM000673.1:g.118898581del GRCh37
NC_000011.8:g.118403791del NCBI36
NG_013331.1:g.8037del , LRG_187:g.8037del

Transcript Alleles

HGVS Amino-acid Change
ENST00000529510.6:n.613del
ENST00000697845.1:n.537del
ENST00000697846.1:n.613del
ENST00000697847.1:n.613del
ENST00000697848.1:n.613del
ENST00000697849.1:n.1652del
ENST00000697850.1:n.613del
ENST00000697851.1:n.1973del
ENST00000638186.1:n.687del
ENST00000638360.1:n.619-100del
ENST00000638925.1:n.620del
ENST00000650539.1:n.789del
ENST00000330775.9:c.384del ENSP00000476242.2:p.Trp128CysfsTer18
ENST00000357590.9:c.384del ENSP00000476176.2:p.Trp128CysfsTer18
ENST00000524428.5:n.705del
ENST00000525039.5:n.807del
ENST00000525102.5:n.1141del
ENST00000525372.5:n.384del
ENST00000525787.1:n.1000del
ENST00000526275.5:n.1165del
ENST00000526626.6:n.346del
ENST00000527992.5:n.611del
ENST00000529510.5:n.399+324del
ENST00000530407.5:n.533del
ENST00000532085.1:n.2994del
ENST00000532888.6:n.679del
ENST00000538950.5:c.165del ENSP00000475991.2:p.Trp55CysfsTer18
ENST00000545985.5:c.384del ENSP00000475241.2:p.Trp128CysfsTer18
NM_001164277.1:c.384del , LRG_187t1:c.384del NP_001157749.1:p.Trp128CysfsTer18
NM_001164278.1:c.384del NP_001157750.1:p.Trp128CysfsTer18
NM_001164279.1:c.165del NP_001157751.1:p.Trp55CysfsTer18
NM_001164280.1:c.384del NP_001157752.1:p.Trp128CysfsTer18
NM_001467.5:c.384del NP_001458.1:p.Trp128CysfsTer18
NM_001164278.2:c.384del NP_001157750.1:p.Trp128CysfsTer18
NM_001164279.2:c.165del NP_001157751.1:p.Trp55CysfsTer18
NM_001164280.2:c.384del NP_001157752.1:p.Trp128CysfsTer18
NM_001467.6:c.384del NP_001458.1:p.Trp128CysfsTer18
NM_001164277.2:c.384del MANE Select NP_001157749.1:p.Trp128CysfsTer18