Canonical Allele Identifier: CA2573146963

Gene: SLC37A4 TRAPPC4

Linked Data

• ClinVar Variation Id: 1460441
• ClinVar RCV Id: RCV001951598
• dbSNP Id: rs2134628172

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119025262_119025265del , CM000673.2:g.119025262_119025265del	GRCh38
NC_000011.9:g.118895972_118895975del , CM000673.1:g.118895972_118895975del	GRCh37
NC_000011.8:g.118401182_118401185del	NCBI36
NG_013331.1:g.10641_10644del , LRG_187:g.10641_10644del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1259_1262del (SLC37A4)
ENST00000697845.1:n.2248_2251del (SLC37A4)
ENST00000697846.1:n.1621_1624del (SLC37A4)
ENST00000697847.1:n.1332_1335del (SLC37A4)
ENST00000697849.1:n.3725_3728del (SLC37A4)
ENST00000697850.1:n.1916_1919del (SLC37A4)
ENST00000697851.1:n.2887_2890del (SLC37A4)
ENST00000638186.1:n.1353_1356del (SLC37A4)
ENST00000638360.1:n.1185_1188del (SLC37A4)
ENST00000638925.1:n.1318_1321del (SLC37A4)
ENST00000650539.1:n.1521_1524del (SLC37A4)
ENST00000330775.9:c.1049_1052del (SLC37A4)	ENSP00000476242.2:p.Gly350AlafsTer2
ENST00000357590.9:c.1115_1118del (SLC37A4)	ENSP00000476176.2:p.Gly372AlafsTer2
ENST00000524428.5:n.1285_1288del (SLC37A4)
ENST00000525039.5:n.1539_1542del (SLC37A4)
ENST00000525102.5:n.1807_1810del (SLC37A4)
ENST00000525372.5:n.1147_1150del (SLC37A4)
ENST00000526275.5:n.1831_1834del (SLC37A4)
ENST00000527992.5:n.1277_1280del (SLC37A4)
ENST00000529510.5:n.737_740del (SLC37A4)
ENST00000530407.5:n.1199_1202del (SLC37A4)
ENST00000532085.1:n.5067_5070del (SLC37A4)
ENST00000533058.5:c.*213_*216del (TRAPPC4)	ENSP00000432920.1:n.*213_*216del
ENST00000538950.5:c.830_833del (SLC37A4)	ENSP00000475991.2:p.Gly277AlafsTer2
ENST00000545985.5:c.1049_1052del (SLC37A4)	ENSP00000475241.2:p.Gly350AlafsTer2
NM_001164277.1:c.1049_1052del , LRG_187t1:c.1049_1052del (SLC37A4)	NP_001157749.1:p.Gly350AlafsTer2
NM_001164278.1:c.1115_1118del (SLC37A4)	NP_001157750.1:p.Gly372AlafsTer2
NM_001164279.1:c.830_833del (SLC37A4)	NP_001157751.1:p.Gly277AlafsTer2
NM_001164280.1:c.1049_1052del (SLC37A4)	NP_001157752.1:p.Gly350AlafsTer2
NM_001467.5:c.1049_1052del (SLC37A4)	NP_001458.1:p.Gly350AlafsTer2
NM_001164278.2:c.1115_1118del (SLC37A4)	NP_001157750.1:p.Gly372AlafsTer2
NM_001164279.2:c.830_833del (SLC37A4)	NP_001157751.1:p.Gly277AlafsTer2
NM_001164280.2:c.1049_1052del (SLC37A4)	NP_001157752.1:p.Gly350AlafsTer2
NM_001467.6:c.1049_1052del (SLC37A4)	NP_001458.1:p.Gly350AlafsTer2
NM_001164277.2:c.1049_1052del (SLC37A4) MANE Select	NP_001157749.1:p.Gly350AlafsTer2