Canonical Allele Identifier: CA6311571

Gene: SLC37A4 TRAPPC4

Linked Data

• ClinVar Variation Id: 553127
• ClinVar RCV Id: RCV000668509
• dbSNP Id: rs782195068
• ExAC: 11:118895613 ACT / A
• gnomAD v2: 11-118895613-ACT-A
• gnomAD v3: 11-119024903-ACT-A
• gnomAD v4: 11-119024903-ACT-A
• MyVariant Identifiers: chr11:g.118895614_118895615del (hg19) ; chr11:g.119024904_119024905del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119024908_119024909del , CM000673.2:g.119024908_119024909del	GRCh38
NC_000011.9:g.118895618_118895619del , CM000673.1:g.118895618_118895619del	GRCh37
NC_000011.8:g.118400828_118400829del	NCBI36
NG_013331.1:g.11001_11002del , LRG_187:g.11001_11002del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1505_1506del (SLC37A4)
ENST00000697845.1:n.2494_2495del (SLC37A4)
ENST00000697846.1:n.1867_1868del (SLC37A4)
ENST00000697847.1:n.1578_1579del (SLC37A4)
ENST00000697849.1:n.3971_3972del (SLC37A4)
ENST00000697850.1:n.2162_2163del (SLC37A4)
ENST00000697851.1:n.3133_3134del (SLC37A4)
ENST00000638186.1:n.1599_1600del (SLC37A4)
ENST00000638360.1:n.1431_1432del (SLC37A4)
ENST00000638925.1:n.1564_1565del (SLC37A4)
ENST00000650539.1:n.1767_1768del (SLC37A4)
ENST00000330775.9:c.*5_*6del (SLC37A4)	ENSP00000476242.2:n.*5_*6del
ENST00000357590.9:c.*5_*6del (SLC37A4)	ENSP00000476176.2:n.*5_*6del
ENST00000525102.5:n.2053_2054del (SLC37A4)
ENST00000526275.5:n.2077_2078del (SLC37A4)
ENST00000527992.5:n.1523_1524del (SLC37A4)
ENST00000530407.5:n.1445_1446del (SLC37A4)
ENST00000532085.1:n.5313_5314del (SLC37A4)
ENST00000533058.5:c.633_634del (TRAPPC4)	ENSP00000432920.1:p.Phe212HisfsTer?
ENST00000538950.5:c.*5_*6del (SLC37A4)	ENSP00000475991.2:n.*5_*6del
ENST00000545985.5:c.*5_*6del (SLC37A4)	ENSP00000475241.2:n.*5_*6del
NM_001164277.1:c.*5_*6del , LRG_187t1:c.*5_*6del (SLC37A4)	NP_001157749.1:n.*5_*6del
NM_001164278.1:c.*5_*6del (SLC37A4)	NP_001157750.1:n.*5_*6del
NM_001164279.1:c.*5_*6del (SLC37A4)	NP_001157751.1:n.*5_*6del
NM_001164280.1:c.*5_*6del (SLC37A4)	NP_001157752.1:n.*5_*6del
NM_001467.5:c.*5_*6del (SLC37A4)	NP_001458.1:n.*5_*6del
NM_001164278.2:c.*5_*6del (SLC37A4)	NP_001157750.1:n.*5_*6del
NM_001164279.2:c.*5_*6del (SLC37A4)	NP_001157751.1:n.*5_*6del
NM_001164280.2:c.*5_*6del (SLC37A4)	NP_001157752.1:n.*5_*6del
NM_001467.6:c.*5_*6del (SLC37A4)	NP_001458.1:n.*5_*6del
NM_001164277.2:c.*5_*6del (SLC37A4) MANE Select	NP_001157749.1:n.*5_*6del