Canonical Allele Identifier: CA2575003140

Gene: SLC37A4 TRAPPC4

Linked Data

• ClinVar Variation Id: 2780238
• ClinVar RCV Id: RCV003618132
• gnomAD v4: 11-119025024-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119025025del , CM000673.2:g.119025025del	GRCh38
NC_000011.9:g.118895735del , CM000673.1:g.118895735del	GRCh37
NC_000011.8:g.118400945del	NCBI36
NG_013331.1:g.10881del , LRG_187:g.10881del

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.1385del (SLC37A4)
ENST00000697845.1:n.2374del (SLC37A4)
ENST00000697846.1:n.1747del (SLC37A4)
ENST00000697847.1:n.1458del (SLC37A4)
ENST00000697849.1:n.3851del (SLC37A4)
ENST00000697850.1:n.2042del (SLC37A4)
ENST00000697851.1:n.3013del (SLC37A4)
ENST00000638186.1:n.1479del (SLC37A4)
ENST00000638360.1:n.1311del (SLC37A4)
ENST00000638925.1:n.1444del (SLC37A4)
ENST00000650539.1:n.1647del (SLC37A4)
ENST00000330775.9:c.1175del (SLC37A4)	ENSP00000476242.2:p.Ser392IlefsTer11
ENST00000357590.9:c.1241del (SLC37A4)	ENSP00000476176.2:p.Ser414IlefsTer11
ENST00000524428.5:n.1411del (SLC37A4)
ENST00000525039.5:n.1665del (SLC37A4)
ENST00000525102.5:n.1933del (SLC37A4)
ENST00000525372.5:n.1273del (SLC37A4)
ENST00000526275.5:n.1957del (SLC37A4)
ENST00000527992.5:n.1403del (SLC37A4)
ENST00000530407.5:n.1325del (SLC37A4)
ENST00000532085.1:n.5193del (SLC37A4)
ENST00000533058.5:c.750del (TRAPPC4)	ENSP00000432920.1:p.Cys251ValfsTer?
ENST00000538950.5:c.956del (SLC37A4)	ENSP00000475991.2:p.Ser319IlefsTer11
ENST00000545985.5:c.1175del (SLC37A4)	ENSP00000475241.2:p.Ser392IlefsTer11
NM_001164277.1:c.1175del , LRG_187t1:c.1175del (SLC37A4)	NP_001157749.1:p.Ser392IlefsTer11
NM_001164278.1:c.1241del (SLC37A4)	NP_001157750.1:p.Ser414IlefsTer11
NM_001164279.1:c.956del (SLC37A4)	NP_001157751.1:p.Ser319IlefsTer11
NM_001164280.1:c.1175del (SLC37A4)	NP_001157752.1:p.Ser392IlefsTer11
NM_001467.5:c.1175del (SLC37A4)	NP_001458.1:p.Ser392IlefsTer11
NM_001164278.2:c.1241del (SLC37A4)	NP_001157750.1:p.Ser414IlefsTer11
NM_001164279.2:c.956del (SLC37A4)	NP_001157751.1:p.Ser319IlefsTer11
NM_001164280.2:c.1175del (SLC37A4)	NP_001157752.1:p.Ser392IlefsTer11
NM_001467.6:c.1175del (SLC37A4)	NP_001458.1:p.Ser392IlefsTer11
NM_001164277.2:c.1175del (SLC37A4) MANE Select	NP_001157749.1:p.Ser392IlefsTer11