Canonical Allele Identifier: CA2580083656
Gene: SLC37A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2125836
ClinVar RCV Id: RCV003043819

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119026016_119026017del , CM000673.2:g.119026016_119026017del GRCh38
NC_000011.9:g.118896726_118896727del , CM000673.1:g.118896726_118896727del GRCh37
NC_000011.8:g.118401936_118401937del NCBI36
NG_013331.1:g.9890_9891del , LRG_187:g.9890_9891del

Transcript Alleles

HGVS Amino-acid Change
ENST00000529510.6:n.1079_1080del
ENST00000697845.1:n.1859_1860del
ENST00000697846.1:n.1079_1080del
ENST00000697847.1:n.1202-259_1202-258del
ENST00000697848.1:n.1165_1166del
ENST00000697849.1:n.2974_2975del
ENST00000697850.1:n.1165_1166del
ENST00000697851.1:n.2773_2774del
ENST00000638186.1:n.1239_1240del
ENST00000638360.1:n.1071_1072del
ENST00000638925.1:n.1204_1205del
ENST00000650539.1:n.1341_1342del
ENST00000330775.9:c.935_936del ENSP00000476242.2:p.Thr312SerfsTer13
ENST00000357590.9:c.935_936del ENSP00000476176.2:p.Thr312SerfsTer13
ENST00000524428.5:n.1171_1172del
ENST00000525039.5:n.1359_1360del
ENST00000525102.5:n.1693_1694del
ENST00000525372.5:n.1033_1034del
ENST00000526275.5:n.1717_1718del
ENST00000527992.5:n.1163_1164del
ENST00000529510.5:n.623_624del
ENST00000530407.5:n.1085_1086del
ENST00000532085.1:n.4316_4317del
ENST00000538950.5:c.716_717del ENSP00000475991.2:p.Thr239SerfsTer13
ENST00000545985.5:c.935_936del ENSP00000475241.2:p.Thr312SerfsTer13
NM_001164277.1:c.935_936del , LRG_187t1:c.935_936del NP_001157749.1:p.Thr312SerfsTer13
NM_001164278.1:c.935_936del NP_001157750.1:p.Thr312SerfsTer13
NM_001164279.1:c.716_717del NP_001157751.1:p.Thr239SerfsTer13
NM_001164280.1:c.935_936del NP_001157752.1:p.Thr312SerfsTer13
NM_001467.5:c.935_936del NP_001458.1:p.Thr312SerfsTer13
NM_001164278.2:c.935_936del NP_001157750.1:p.Thr312SerfsTer13
NM_001164279.2:c.716_717del NP_001157751.1:p.Thr239SerfsTer13
NM_001164280.2:c.935_936del NP_001157752.1:p.Thr312SerfsTer13
NM_001467.6:c.935_936del NP_001458.1:p.Thr312SerfsTer13
NM_001164277.2:c.935_936del MANE Select NP_001157749.1:p.Thr312SerfsTer13