Canonical Allele Identifier: CA1139662374

Gene: SLC37A4 TRAPPC4

Linked Data

• ClinVar Variation Id: 987812
• ClinVar RCV Id: RCV001269152
• dbSNP Id: rs1943525176

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119025278_119025297del , CM000673.2:g.119025278_119025297del	GRCh38
NC_000011.9:g.118895988_118896007del , CM000673.1:g.118895988_118896007del	GRCh37
NC_000011.8:g.118401198_118401217del	NCBI36
NG_013331.1:g.10611_10630del , LRG_187:g.10611_10630del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1229_1248del (SLC37A4)
ENST00000697845.1:n.2218_2237del (SLC37A4)
ENST00000697846.1:n.1591_1610del (SLC37A4)
ENST00000697847.1:n.1302_1321del (SLC37A4)
ENST00000697849.1:n.3695_3714del (SLC37A4)
ENST00000697850.1:n.1886_1905del (SLC37A4)
ENST00000697851.1:n.2857_2876del (SLC37A4)
ENST00000638186.1:n.1323_1342del (SLC37A4)
ENST00000638360.1:n.1155_1174del (SLC37A4)
ENST00000638925.1:n.1288_1307del (SLC37A4)
ENST00000650539.1:n.1491_1510del (SLC37A4)
ENST00000330775.9:c.1019_1038del (SLC37A4)	ENSP00000476242.2:p.Phe340CysfsTer?
ENST00000357590.9:c.1085_1104del (SLC37A4)	ENSP00000476176.2:p.Phe362CysfsTer?
ENST00000524428.5:n.1255_1274del (SLC37A4)
ENST00000525039.5:n.1509_1528del (SLC37A4)
ENST00000525102.5:n.1777_1796del (SLC37A4)
ENST00000525372.5:n.1117_1136del (SLC37A4)
ENST00000526275.5:n.1801_1820del (SLC37A4)
ENST00000527992.5:n.1247_1266del (SLC37A4)
ENST00000529510.5:n.707_726del (SLC37A4)
ENST00000530407.5:n.1169_1188del (SLC37A4)
ENST00000532085.1:n.5037_5056del (SLC37A4)
ENST00000533058.5:c.*229_*248del (TRAPPC4)	ENSP00000432920.1:n.*229_*248del
ENST00000538950.5:c.800_819del (SLC37A4)	ENSP00000475991.2:p.Phe267CysfsTer?
ENST00000545985.5:c.1019_1038del (SLC37A4)	ENSP00000475241.2:p.Phe340CysfsTer?
NM_001164277.1:c.1019_1038del , LRG_187t1:c.1019_1038del (SLC37A4)	NP_001157749.1:p.Phe340CysfsTer?
NM_001164278.1:c.1085_1104del (SLC37A4)	NP_001157750.1:p.Phe362CysfsTer?
NM_001164279.1:c.800_819del (SLC37A4)	NP_001157751.1:p.Phe267CysfsTer?
NM_001164280.1:c.1019_1038del (SLC37A4)	NP_001157752.1:p.Phe340CysfsTer?
NM_001467.5:c.1019_1038del (SLC37A4)	NP_001458.1:p.Phe340CysfsTer?
NM_001164278.2:c.1085_1104del (SLC37A4)	NP_001157750.1:p.Phe362CysfsTer?
NM_001164279.2:c.800_819del (SLC37A4)	NP_001157751.1:p.Phe267CysfsTer?
NM_001164280.2:c.1019_1038del (SLC37A4)	NP_001157752.1:p.Phe340CysfsTer?
NM_001467.6:c.1019_1038del (SLC37A4)	NP_001458.1:p.Phe340CysfsTer?
NM_001164277.2:c.1019_1038del (SLC37A4) MANE Select	NP_001157749.1:p.Phe340CysfsTer?