Canonical Allele Identifier: CA2695199033

Gene: SLC37A4 TRAPPC4

Linked Data

• ClinVar Variation Id: 2678948
• ClinVar RCV Id: RCV003472924

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119025251_119025252insCCAAC , CM000673.2:g.119025251_119025252insCCAAC	GRCh38
NC_000011.9:g.118895961_118895962insCCAAC , CM000673.1:g.118895961_118895962insCCAAC	GRCh37
NC_000011.8:g.118401171_118401172insCCAAC	NCBI36
NG_013331.1:g.10655_10656insTTGGG , LRG_187:g.10655_10656insTTGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1273_1274insTTGGG (SLC37A4)
ENST00000697845.1:n.2262_2263insTTGGG (SLC37A4)
ENST00000697846.1:n.1635_1636insTTGGG (SLC37A4)
ENST00000697847.1:n.1346_1347insTTGGG (SLC37A4)
ENST00000697849.1:n.3739_3740insTTGGG (SLC37A4)
ENST00000697850.1:n.1930_1931insTTGGG (SLC37A4)
ENST00000697851.1:n.2901_2902insTTGGG (SLC37A4)
ENST00000638186.1:n.1367_1368insTTGGG (SLC37A4)
ENST00000638360.1:n.1199_1200insTTGGG (SLC37A4)
ENST00000638925.1:n.1332_1333insTTGGG (SLC37A4)
ENST00000650539.1:n.1535_1536insTTGGG (SLC37A4)
ENST00000330775.9:c.1063_1064insTTGGG (SLC37A4)	ENSP00000476242.2:p.Glu355ValfsTer?
ENST00000357590.9:c.1129_1130insTTGGG (SLC37A4)	ENSP00000476176.2:p.Glu377ValfsTer?
ENST00000524428.5:n.1299_1300insTTGGG (SLC37A4)
ENST00000525039.5:n.1553_1554insTTGGG (SLC37A4)
ENST00000525102.5:n.1821_1822insTTGGG (SLC37A4)
ENST00000525372.5:n.1161_1162insTTGGG (SLC37A4)
ENST00000526275.5:n.1845_1846insTTGGG (SLC37A4)
ENST00000527992.5:n.1291_1292insTTGGG (SLC37A4)
ENST00000529510.5:n.751_752insTTGGG (SLC37A4)
ENST00000530407.5:n.1213_1214insTTGGG (SLC37A4)
ENST00000532085.1:n.5081_5082insTTGGG (SLC37A4)
ENST00000533058.5:c.*202_*203insCCAAC (TRAPPC4)	ENSP00000432920.1:n.*202_*203insCCAAC
ENST00000538950.5:c.844_845insTTGGG (SLC37A4)	ENSP00000475991.2:p.Glu282ValfsTer?
ENST00000545985.5:c.1063_1064insTTGGG (SLC37A4)	ENSP00000475241.2:p.Glu355ValfsTer?
NM_001164277.1:c.1063_1064insTTGGG , LRG_187t1:c.1063_1064insTTGGG (SLC37A4)	NP_001157749.1:p.Glu355ValfsTer?
NM_001164278.1:c.1129_1130insTTGGG (SLC37A4)	NP_001157750.1:p.Glu377ValfsTer?
NM_001164279.1:c.844_845insTTGGG (SLC37A4)	NP_001157751.1:p.Glu282ValfsTer?
NM_001164280.1:c.1063_1064insTTGGG (SLC37A4)	NP_001157752.1:p.Glu355ValfsTer?
NM_001467.5:c.1063_1064insTTGGG (SLC37A4)	NP_001458.1:p.Glu355ValfsTer?
NM_001164278.2:c.1129_1130insTTGGG (SLC37A4)	NP_001157750.1:p.Glu377ValfsTer?
NM_001164279.2:c.844_845insTTGGG (SLC37A4)	NP_001157751.1:p.Glu282ValfsTer?
NM_001164280.2:c.1063_1064insTTGGG (SLC37A4)	NP_001157752.1:p.Glu355ValfsTer?
NM_001467.6:c.1063_1064insTTGGG (SLC37A4)	NP_001458.1:p.Glu355ValfsTer?
NM_001164277.2:c.1063_1064insTTGGG (SLC37A4) MANE Select	NP_001157749.1:p.Glu355ValfsTer?