Canonical Allele Identifier: CA2580083653

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 2104175
• ClinVar RCV Id: RCV003031249

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119025989_119025990del , CM000673.2:g.119025989_119025990del	GRCh38
NC_000011.9:g.118896699_118896700del , CM000673.1:g.118896699_118896700del	GRCh37
NC_000011.8:g.118401909_118401910del	NCBI36
NG_013331.1:g.9917_9918del , LRG_187:g.9917_9918del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1106_1107del
ENST00000697845.1:n.1886_1887del
ENST00000697846.1:n.1106_1107del
ENST00000697847.1:n.1202-232_1202-231del
ENST00000697848.1:n.1192_1193del
ENST00000697849.1:n.3001_3002del
ENST00000697850.1:n.1192_1193del
ENST00000697851.1:n.2800_2801del
ENST00000638186.1:n.1266_1267del
ENST00000638360.1:n.1098_1099del
ENST00000638925.1:n.1231_1232del
ENST00000650539.1:n.1368_1369del
ENST00000330775.9:c.962_963del	ENSP00000476242.2:p.Thr321SerfsTer4
ENST00000357590.9:c.962_963del	ENSP00000476176.2:p.Thr321SerfsTer4
ENST00000524428.5:n.1198_1199del
ENST00000525039.5:n.1386_1387del
ENST00000525102.5:n.1720_1721del
ENST00000525372.5:n.1060_1061del
ENST00000526275.5:n.1744_1745del
ENST00000527992.5:n.1190_1191del
ENST00000529510.5:n.650_651del
ENST00000530407.5:n.1112_1113del
ENST00000532085.1:n.4343_4344del
ENST00000538950.5:c.743_744del	ENSP00000475991.2:p.Thr248SerfsTer4
ENST00000545985.5:c.962_963del	ENSP00000475241.2:p.Thr321SerfsTer4
NM_001164277.1:c.962_963del , LRG_187t1:c.962_963del	NP_001157749.1:p.Thr321SerfsTer4
NM_001164278.1:c.962_963del	NP_001157750.1:p.Thr321SerfsTer4
NM_001164279.1:c.743_744del	NP_001157751.1:p.Thr248SerfsTer4
NM_001164280.1:c.962_963del	NP_001157752.1:p.Thr321SerfsTer4
NM_001467.5:c.962_963del	NP_001458.1:p.Thr321SerfsTer4
NM_001164278.2:c.962_963del	NP_001157750.1:p.Thr321SerfsTer4
NM_001164279.2:c.743_744del	NP_001157751.1:p.Thr248SerfsTer4
NM_001164280.2:c.962_963del	NP_001157752.1:p.Thr321SerfsTer4
NM_001467.6:c.962_963del	NP_001458.1:p.Thr321SerfsTer4
NM_001164277.2:c.962_963del MANE Select	NP_001157749.1:p.Thr321SerfsTer4