Canonical Allele Identifier: CA658683778
Gene: SLC37A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 493106
ClinVar RCV Id: RCV000585437
dbSNP Id: rs1555191595

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119028336_119028337del , CM000673.2:g.119028336_119028337del GRCh38
NC_000011.9:g.118899046_118899047del , CM000673.1:g.118899046_118899047del GRCh37
NC_000011.8:g.118404256_118404257del NCBI36
NG_013331.1:g.7570_7571del , LRG_187:g.7570_7571del

Transcript Alleles

HGVS Amino-acid Change
ENST00000529510.6:n.467_468del
ENST00000697845.1:n.391_392del
ENST00000697846.1:n.467_468del
ENST00000697847.1:n.467_468del
ENST00000697848.1:n.467_468del
ENST00000697849.1:n.1506_1507del
ENST00000697850.1:n.467_468del
ENST00000697851.1:n.1506_1507del
ENST00000638186.1:n.541_542del
ENST00000638360.1:n.475_476del
ENST00000638925.1:n.474_475del
ENST00000650539.1:n.643_644del
ENST00000330775.9:c.238_239del ENSP00000476242.2:p.Phe80LeufsTer30
ENST00000357590.9:c.238_239del ENSP00000476176.2:p.Phe80LeufsTer30
ENST00000524428.5:n.238_239del
ENST00000525039.5:n.661_662del
ENST00000525102.5:n.995_996del
ENST00000525372.5:n.238_239del
ENST00000525787.1:n.533_534del
ENST00000526275.5:n.698_699del
ENST00000526626.6:n.344-465_344-464del
ENST00000527992.5:n.465_466del
ENST00000529510.5:n.256_257del
ENST00000530407.5:n.387_388del
ENST00000532085.1:n.2527_2528del
ENST00000532888.6:n.533_534del
ENST00000534384.1:n.458_459del
ENST00000538950.5:c.19_20del ENSP00000475991.2:p.Phe7LeufsTer30
ENST00000545985.5:c.238_239del ENSP00000475241.2:p.Phe80LeufsTer30
NM_001164277.1:c.238_239del , LRG_187t1:c.238_239del NP_001157749.1:p.Phe80LeufsTer30
NM_001164278.1:c.238_239del NP_001157750.1:p.Phe80LeufsTer30
NM_001164279.1:c.19_20del NP_001157751.1:p.Phe7LeufsTer30
NM_001164280.1:c.238_239del NP_001157752.1:p.Phe80LeufsTer30
NM_001467.5:c.238_239del NP_001458.1:p.Phe80LeufsTer30
NM_001164278.2:c.238_239del NP_001157750.1:p.Phe80LeufsTer30
NM_001164279.2:c.19_20del NP_001157751.1:p.Phe7LeufsTer30
NM_001164280.2:c.238_239del NP_001157752.1:p.Phe80LeufsTer30
NM_001467.6:c.238_239del NP_001458.1:p.Phe80LeufsTer30
NM_001164277.2:c.238_239del MANE Select NP_001157749.1:p.Phe80LeufsTer30