Canonical Allele Identifier: CA2697552060
Gene: SLC37A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2768890
ClinVar RCV Id: RCV003507878

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119027751_119027763del , CM000673.2:g.119027751_119027763del GRCh38
NC_000011.9:g.118898461_118898473del , CM000673.1:g.118898461_118898473del GRCh37
NC_000011.8:g.118403671_118403683del NCBI36
NG_013331.1:g.8150_8162del , LRG_187:g.8150_8162del

Transcript Alleles

HGVS Amino-acid change
ENST00000529510.6:n.726_738del
ENST00000697845.1:n.650_662del
ENST00000697846.1:n.726_738del
ENST00000697847.1:n.726_738del
ENST00000697848.1:n.726_738del
ENST00000697849.1:n.1765_1777del
ENST00000697850.1:n.726_738del
ENST00000697851.1:n.2086_2098del
ENST00000638186.1:n.800_812del
ENST00000638360.1:n.632_644del
ENST00000638925.1:n.733_745del
ENST00000650539.1:n.902_914del
ENST00000330775.9:c.497_509del ENSP00000476242.2:p.Arg166ProfsTer?
ENST00000357590.9:c.497_509del ENSP00000476176.2:p.Arg166ProfsTer?
ENST00000524428.5:n.818_830del
ENST00000525039.5:n.920_932del
ENST00000525102.5:n.1254_1266del
ENST00000525372.5:n.497_509del
ENST00000526275.5:n.1278_1290del
ENST00000526626.6:n.459_471del
ENST00000527992.5:n.724_736del
ENST00000529510.5:n.399+437_399+449del
ENST00000530407.5:n.646_658del
ENST00000532085.1:n.3107_3119del
ENST00000532888.6:n.792_804del
ENST00000538950.5:c.278_290del ENSP00000475991.2:p.Arg93ProfsTer?
ENST00000545985.5:c.497_509del ENSP00000475241.2:p.Arg166ProfsTer?
NM_001164277.1:c.497_509del , LRG_187t1:c.497_509del NP_001157749.1:p.Arg166ProfsTer?
NM_001164278.1:c.497_509del NP_001157750.1:p.Arg166ProfsTer?
NM_001164279.1:c.278_290del NP_001157751.1:p.Arg93ProfsTer?
NM_001164280.1:c.497_509del NP_001157752.1:p.Arg166ProfsTer?
NM_001467.5:c.497_509del NP_001458.1:p.Arg166ProfsTer?
NM_001164278.2:c.497_509del NP_001157750.1:p.Arg166ProfsTer?
NM_001164279.2:c.278_290del NP_001157751.1:p.Arg93ProfsTer?
NM_001164280.2:c.497_509del NP_001157752.1:p.Arg166ProfsTer?
NM_001467.6:c.497_509del NP_001458.1:p.Arg166ProfsTer?
NM_001164277.2:c.497_509del MANE Select NP_001157749.1:p.Arg166ProfsTer?