Canonical Allele Identifier: CA915947775
Gene: SLC37A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 648054
ClinVar RCV Id: RCV000802697
dbSNP Id: rs1592111172

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119026676_119026677del , CM000673.2:g.119026676_119026677del GRCh38
NC_000011.9:g.118897386_118897387del , CM000673.1:g.118897386_118897387del GRCh37
NC_000011.8:g.118402596_118402597del NCBI36
NG_013331.1:g.9229_9230del , LRG_187:g.9229_9230del

Transcript Alleles

HGVS Amino-acid Change
ENST00000529510.6:n.1014+260_1014+261del
ENST00000697845.1:n.1198_1199del
ENST00000697846.1:n.1014+260_1014+261del
ENST00000697847.1:n.1026_1027del
ENST00000697848.1:n.1026_1027del
ENST00000697849.1:n.2313_2314del
ENST00000697850.1:n.1026_1027del
ENST00000697851.1:n.2634_2635del
ENST00000638186.1:n.1100_1101del
ENST00000638360.1:n.932_933del
ENST00000638925.1:n.1033_1034del
ENST00000650539.1:n.1202_1203del
ENST00000330775.9:c.796_797del ENSP00000476242.2:p.Met266GlufsTer?
ENST00000357590.9:c.796_797del ENSP00000476176.2:p.Met266GlufsTer?
ENST00000524428.5:n.1106+260_1106+261del
ENST00000525039.5:n.1220_1221del
ENST00000525102.5:n.1554_1555del
ENST00000525372.5:n.797_798del
ENST00000526275.5:n.1578_1579del
ENST00000527992.5:n.1024_1025del
ENST00000529510.5:n.558+260_558+261del
ENST00000530407.5:n.946_947del
ENST00000532085.1:n.3655_3656del
ENST00000532888.6:n.1340_1341del
ENST00000538950.5:c.577_578del ENSP00000475991.2:p.Met193GlufsTer?
ENST00000545985.5:c.796_797del ENSP00000475241.2:p.Met266GlufsTer?
NM_001164277.1:c.796_797del , LRG_187t1:c.796_797del NP_001157749.1:p.Met266GlufsTer?
NM_001164278.1:c.796_797del NP_001157750.1:p.Met266GlufsTer?
NM_001164279.1:c.577_578del NP_001157751.1:p.Met193GlufsTer?
NM_001164280.1:c.796_797del NP_001157752.1:p.Met266GlufsTer?
NM_001467.5:c.796_797del NP_001458.1:p.Met266GlufsTer?
NM_001164278.2:c.796_797del NP_001157750.1:p.Met266GlufsTer?
NM_001164279.2:c.577_578del NP_001157751.1:p.Met193GlufsTer?
NM_001164280.2:c.796_797del NP_001157752.1:p.Met266GlufsTer?
NM_001467.6:c.796_797del NP_001458.1:p.Met266GlufsTer?
NM_001164277.2:c.796_797del MANE Select NP_001157749.1:p.Met266GlufsTer?