Canonical Allele Identifier: CA2580615097
Gene: SLC37A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1475868
ClinVar RCV Id: RCV001976568
dbSNP Id: rs2134637839

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119027755_119027757dup , CM000673.2:g.119027755_119027757dup GRCh38
NC_000011.9:g.118898465_118898467dup , CM000673.1:g.118898465_118898467dup GRCh37
NC_000011.8:g.118403675_118403677dup NCBI36
NG_013331.1:g.8153_8155dup , LRG_187:g.8153_8155dup

Transcript Alleles

HGVS Amino-acid change
ENST00000529510.6:n.729_731dup
ENST00000697845.1:n.653_655dup
ENST00000697846.1:n.729_731dup
ENST00000697847.1:n.729_731dup
ENST00000697848.1:n.729_731dup
ENST00000697849.1:n.1768_1770dup
ENST00000697850.1:n.729_731dup
ENST00000697851.1:n.2089_2091dup
ENST00000638186.1:n.803_805dup
ENST00000638360.1:n.635_637dup
ENST00000638925.1:n.736_738dup
ENST00000650539.1:n.905_907dup
ENST00000330775.9:c.500_502dup ENSP00000476242.2:p.Ser167_Thr168insSer
ENST00000357590.9:c.500_502dup ENSP00000476176.2:p.Ser167_Thr168insSer
ENST00000524428.5:n.821_823dup
ENST00000525039.5:n.923_925dup
ENST00000525102.5:n.1257_1259dup
ENST00000525372.5:n.500_502dup
ENST00000526275.5:n.1281_1283dup
ENST00000526626.6:n.462_464dup
ENST00000527992.5:n.727_729dup
ENST00000529510.5:n.399+440_399+442dup
ENST00000530407.5:n.649_651dup
ENST00000532085.1:n.3110_3112dup
ENST00000532888.6:n.795_797dup
ENST00000538950.5:c.281_283dup ENSP00000475991.2:p.Ser94_Thr95insSer
ENST00000545985.5:c.500_502dup ENSP00000475241.2:p.Ser167_Thr168insSer
NM_001164277.1:c.500_502dup , LRG_187t1:c.500_502dup NP_001157749.1:p.Ser167_Thr168insSer
NM_001164278.1:c.500_502dup NP_001157750.1:p.Ser167_Thr168insSer
NM_001164279.1:c.281_283dup NP_001157751.1:p.Ser94_Thr95insSer
NM_001164280.1:c.500_502dup NP_001157752.1:p.Ser167_Thr168insSer
NM_001467.5:c.500_502dup NP_001458.1:p.Ser167_Thr168insSer
NM_001164278.2:c.500_502dup NP_001157750.1:p.Ser167_Thr168insSer
NM_001164279.2:c.281_283dup NP_001157751.1:p.Ser94_Thr95insSer
NM_001164280.2:c.500_502dup NP_001157752.1:p.Ser167_Thr168insSer
NM_001467.6:c.500_502dup NP_001458.1:p.Ser167_Thr168insSer
NM_001164277.2:c.500_502dup MANE Select NP_001157749.1:p.Ser167_Thr168insSer