Canonical Allele Identifier: CA2739271748

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 2894393
• ClinVar RCV Id: RCV003618855

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119028296del , CM000673.2:g.119028296del	GRCh38
NC_000011.9:g.118899006del , CM000673.1:g.118899006del	GRCh37
NC_000011.8:g.118404216del	NCBI36
NG_013331.1:g.7611del , LRG_187:g.7611del

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.508del
ENST00000697845.1:n.432del
ENST00000697846.1:n.508del
ENST00000697847.1:n.508del
ENST00000697848.1:n.508del
ENST00000697849.1:n.1547del
ENST00000697850.1:n.508del
ENST00000697851.1:n.1547del
ENST00000638186.1:n.582del
ENST00000638360.1:n.516del
ENST00000638925.1:n.515del
ENST00000650539.1:n.684del
ENST00000330775.9:c.279del	ENSP00000476242.2:p.Phe94LeufsTer?
ENST00000357590.9:c.279del	ENSP00000476176.2:p.Phe94LeufsTer?
ENST00000524428.5:n.279del
ENST00000525039.5:n.702del
ENST00000525102.5:n.1036del
ENST00000525372.5:n.279del
ENST00000525787.1:n.574del
ENST00000526275.5:n.739del
ENST00000526626.6:n.344-424del
ENST00000527992.5:n.506del
ENST00000529510.5:n.297del
ENST00000530407.5:n.428del
ENST00000532085.1:n.2568del
ENST00000532888.6:n.574del
ENST00000534384.1:n.499del
ENST00000538950.5:c.60del	ENSP00000475991.2:p.Phe21LeufsTer?
ENST00000545985.5:c.279del	ENSP00000475241.2:p.Phe94LeufsTer?
NM_001164277.1:c.279del , LRG_187t1:c.279del	NP_001157749.1:p.Phe94LeufsTer?
NM_001164278.1:c.279del	NP_001157750.1:p.Phe94LeufsTer?
NM_001164279.1:c.60del	NP_001157751.1:p.Phe21LeufsTer?
NM_001164280.1:c.279del	NP_001157752.1:p.Phe94LeufsTer?
NM_001467.5:c.279del	NP_001458.1:p.Phe94LeufsTer?
NM_001164278.2:c.279del	NP_001157750.1:p.Phe94LeufsTer?
NM_001164279.2:c.60del	NP_001157751.1:p.Phe21LeufsTer?
NM_001164280.2:c.279del	NP_001157752.1:p.Phe94LeufsTer?
NM_001467.6:c.279del	NP_001458.1:p.Phe94LeufsTer?
NM_001164277.2:c.279del MANE Select	NP_001157749.1:p.Phe94LeufsTer?