Canonical Allele Identifier: CA2616339990

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 2678958
• ClinVar RCV Id: RCV003472934
• gnomAD v4: 11-119026078-C-CGCCTATGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119026079_119026087dup , CM000673.2:g.119026079_119026087dup	GRCh38
NC_000011.9:g.118896789_118896797dup , CM000673.1:g.118896789_118896797dup	GRCh37
NC_000011.8:g.118401999_118402007dup	NCBI36
NG_013331.1:g.9819_9827dup , LRG_187:g.9819_9827dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1015-7_1016dup
ENST00000697845.1:n.1788_1796dup
ENST00000697846.1:n.1015-7_1016dup
ENST00000697847.1:n.1202-330_1202-322dup
ENST00000697848.1:n.1101-7_1102dup
ENST00000697849.1:n.2903_2911dup
ENST00000697850.1:n.1101-7_1102dup
ENST00000697851.1:n.2709-7_2710dup
ENST00000638186.1:n.1175-7_1176dup
ENST00000638360.1:n.1007-7_1008dup
ENST00000638925.1:n.1140-7_1141dup
ENST00000650539.1:n.1277-7_1278dup
ENST00000330775.9:c.871-7_872dup
ENST00000357590.9:c.871-7_872dup
ENST00000524428.5:n.1107-7_1108dup
ENST00000525039.5:n.1295-7_1296dup
ENST00000525102.5:n.1629-7_1630dup
ENST00000525372.5:n.969-7_970dup
ENST00000526275.5:n.1653-7_1654dup
ENST00000527992.5:n.1099-7_1100dup
ENST00000529510.5:n.559-7_560dup
ENST00000530407.5:n.1021-7_1022dup
ENST00000532085.1:n.4245_4253dup
ENST00000538950.5:c.652-7_653dup
ENST00000545985.5:c.871-7_872dup
NM_001164277.1:c.871-7_872dup , LRG_187t1:c.871-7_872dup
NM_001164278.1:c.871-7_872dup
NM_001164279.1:c.652-7_653dup
NM_001164280.1:c.871-7_872dup
NM_001467.5:c.871-7_872dup
NM_001164278.2:c.871-7_872dup
NM_001164279.2:c.652-7_653dup
NM_001164280.2:c.871-7_872dup
NM_001467.6:c.871-7_872dup
NM_001164277.2:c.871-7_872dup