Canonical Allele Identifier: CA2580083637

Gene: SLC37A4 TRAPPC4

Linked Data

• ClinVar Variation Id: 2113017
• ClinVar RCV Id: RCV003027110

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119025278_119025286delinsCGAGGCA , CM000673.2:g.119025278_119025286delinsCGAGGCA	GRCh38
NC_000011.9:g.118895988_118895996delinsCGAGGCA , CM000673.1:g.118895988_118895996delinsCGAGGCA	GRCh37
NC_000011.8:g.118401198_118401206delinsCGAGGCA	NCBI36
NG_013331.1:g.10620_10628delinsTGCCTCG , LRG_187:g.10620_10628delinsTGCCTCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1238_1246delinsTGCCTCG (SLC37A4)
ENST00000697845.1:n.2227_2235delinsTGCCTCG (SLC37A4)
ENST00000697846.1:n.1600_1608delinsTGCCTCG (SLC37A4)
ENST00000697847.1:n.1311_1319delinsTGCCTCG (SLC37A4)
ENST00000697849.1:n.3704_3712delinsTGCCTCG (SLC37A4)
ENST00000697850.1:n.1895_1903delinsTGCCTCG (SLC37A4)
ENST00000697851.1:n.2866_2874delinsTGCCTCG (SLC37A4)
ENST00000638186.1:n.1332_1340delinsTGCCTCG (SLC37A4)
ENST00000638360.1:n.1164_1172delinsTGCCTCG (SLC37A4)
ENST00000638925.1:n.1297_1305delinsTGCCTCG (SLC37A4)
ENST00000650539.1:n.1500_1508delinsTGCCTCG (SLC37A4)
ENST00000330775.9:c.1028_1036delinsTGCCTCG (SLC37A4)	ENSP00000476242.2:p.Tyr343LeufsTer?
ENST00000357590.9:c.1094_1102delinsTGCCTCG (SLC37A4)	ENSP00000476176.2:p.Tyr365LeufsTer?
ENST00000524428.5:n.1264_1272delinsTGCCTCG (SLC37A4)
ENST00000525039.5:n.1518_1526delinsTGCCTCG (SLC37A4)
ENST00000525102.5:n.1786_1794delinsTGCCTCG (SLC37A4)
ENST00000525372.5:n.1126_1134delinsTGCCTCG (SLC37A4)
ENST00000526275.5:n.1810_1818delinsTGCCTCG (SLC37A4)
ENST00000527992.5:n.1256_1264delinsTGCCTCG (SLC37A4)
ENST00000529510.5:n.716_724delinsTGCCTCG (SLC37A4)
ENST00000530407.5:n.1178_1186delinsTGCCTCG (SLC37A4)
ENST00000532085.1:n.5046_5054delinsTGCCTCG (SLC37A4)
ENST00000533058.5:c.*229_*237delinsCGAGGCA (TRAPPC4)	ENSP00000432920.1:n.*229_*237delinsCGAGGCA
ENST00000538950.5:c.809_817delinsTGCCTCG (SLC37A4)	ENSP00000475991.2:p.Tyr270LeufsTer?
ENST00000545985.5:c.1028_1036delinsTGCCTCG (SLC37A4)	ENSP00000475241.2:p.Tyr343LeufsTer?
NM_001164277.1:c.1028_1036delinsTGCCTCG , LRG_187t1:c.1028_1036delinsTGCCTCG (SLC37A4)	NP_001157749.1:p.Tyr343LeufsTer?
NM_001164278.1:c.1094_1102delinsTGCCTCG (SLC37A4)	NP_001157750.1:p.Tyr365LeufsTer?
NM_001164279.1:c.809_817delinsTGCCTCG (SLC37A4)	NP_001157751.1:p.Tyr270LeufsTer?
NM_001164280.1:c.1028_1036delinsTGCCTCG (SLC37A4)	NP_001157752.1:p.Tyr343LeufsTer?
NM_001467.5:c.1028_1036delinsTGCCTCG (SLC37A4)	NP_001458.1:p.Tyr343LeufsTer?
NM_001164278.2:c.1094_1102delinsTGCCTCG (SLC37A4)	NP_001157750.1:p.Tyr365LeufsTer?
NM_001164279.2:c.809_817delinsTGCCTCG (SLC37A4)	NP_001157751.1:p.Tyr270LeufsTer?
NM_001164280.2:c.1028_1036delinsTGCCTCG (SLC37A4)	NP_001157752.1:p.Tyr343LeufsTer?
NM_001467.6:c.1028_1036delinsTGCCTCG (SLC37A4)	NP_001458.1:p.Tyr343LeufsTer?
NM_001164277.2:c.1028_1036delinsTGCCTCG (SLC37A4) MANE Select	NP_001157749.1:p.Tyr343LeufsTer?