Canonical Allele Identifier: CA2697552051

Gene: SLC37A4 TRAPPC4

Linked Data

• ClinVar Variation Id: 2717939
• ClinVar RCV Id: RCV003508380

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119025250_119025251delinsCT , CM000673.2:g.119025250_119025251delinsCT	GRCh38
NC_000011.9:g.118895960_118895961delinsCT , CM000673.1:g.118895960_118895961delinsCT	GRCh37
NC_000011.8:g.118401170_118401171delinsCT	NCBI36
NG_013331.1:g.10655_10656delinsAG , LRG_187:g.10655_10656delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1273_1274delinsAG (SLC37A4)
ENST00000697845.1:n.2262_2263delinsAG (SLC37A4)
ENST00000697846.1:n.1635_1636delinsAG (SLC37A4)
ENST00000697847.1:n.1346_1347delinsAG (SLC37A4)
ENST00000697849.1:n.3739_3740delinsAG (SLC37A4)
ENST00000697850.1:n.1930_1931delinsAG (SLC37A4)
ENST00000697851.1:n.2901_2902delinsAG (SLC37A4)
ENST00000638186.1:n.1367_1368delinsAG (SLC37A4)
ENST00000638360.1:n.1199_1200delinsAG (SLC37A4)
ENST00000638925.1:n.1332_1333delinsAG (SLC37A4)
ENST00000650539.1:n.1535_1536delinsAG (SLC37A4)
ENST00000330775.9:c.1063_1064delinsAG (SLC37A4)	ENSP00000476242.2:p.Glu355Arg
ENST00000357590.9:c.1129_1130delinsAG (SLC37A4)	ENSP00000476176.2:p.Glu377Arg
ENST00000524428.5:n.1299_1300delinsAG (SLC37A4)
ENST00000525039.5:n.1553_1554delinsAG (SLC37A4)
ENST00000525102.5:n.1821_1822delinsAG (SLC37A4)
ENST00000525372.5:n.1161_1162delinsAG (SLC37A4)
ENST00000526275.5:n.1845_1846delinsAG (SLC37A4)
ENST00000527992.5:n.1291_1292delinsAG (SLC37A4)
ENST00000529510.5:n.751_752delinsAG (SLC37A4)
ENST00000530407.5:n.1213_1214delinsAG (SLC37A4)
ENST00000532085.1:n.5081_5082delinsAG (SLC37A4)
ENST00000533058.5:c.*201_*202delinsCT (TRAPPC4)	ENSP00000432920.1:n.*201_*202delinsCT
ENST00000538950.5:c.844_845delinsAG (SLC37A4)	ENSP00000475991.2:p.Glu282Arg
ENST00000545985.5:c.1063_1064delinsAG (SLC37A4)	ENSP00000475241.2:p.Glu355Arg
NM_001164277.1:c.1063_1064delinsAG , LRG_187t1:c.1063_1064delinsAG (SLC37A4)	NP_001157749.1:p.Glu355Arg
NM_001164278.1:c.1129_1130delinsAG (SLC37A4)	NP_001157750.1:p.Glu377Arg
NM_001164279.1:c.844_845delinsAG (SLC37A4)	NP_001157751.1:p.Glu282Arg
NM_001164280.1:c.1063_1064delinsAG (SLC37A4)	NP_001157752.1:p.Glu355Arg
NM_001467.5:c.1063_1064delinsAG (SLC37A4)	NP_001458.1:p.Glu355Arg
NM_001164278.2:c.1129_1130delinsAG (SLC37A4)	NP_001157750.1:p.Glu377Arg
NM_001164279.2:c.844_845delinsAG (SLC37A4)	NP_001157751.1:p.Glu282Arg
NM_001164280.2:c.1063_1064delinsAG (SLC37A4)	NP_001157752.1:p.Glu355Arg
NM_001467.6:c.1063_1064delinsAG (SLC37A4)	NP_001458.1:p.Glu355Arg
NM_001164277.2:c.1063_1064delinsAG (SLC37A4) MANE Select	NP_001157749.1:p.Glu355Arg