Canonical Allele Identifier: CA273975
Gene: SLC37A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 188799
ClinVar RCV Id: RCV000169130
dbSNP Id: rs786204477

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119026022_119026033dup , CM000673.2:g.119026022_119026033dup GRCh38
NC_000011.9:g.118896732_118896743dup , CM000673.1:g.118896732_118896743dup GRCh37
NC_000011.8:g.118401942_118401953dup NCBI36
NG_013331.1:g.9878_9889dup , LRG_187:g.9878_9889dup

Transcript Alleles

HGVS Amino-acid change
ENST00000638186.1:n.1227_1238dup
ENST00000638360.1:n.1059_1070dup
ENST00000638925.1:n.1192_1203dup
ENST00000650539.1:n.1329_1340dup
ENST00000330775.9:c.923_934dup ENSP00000476242.2:p.Met311_Thr312insMetAl...
ENST00000357590.9:c.923_934dup ENSP00000476176.2:p.Met311_Thr312insMetAl...
ENST00000524428.5:n.1159_1170dup
ENST00000525039.5:n.1347_1358dup
ENST00000525102.5:n.1681_1692dup
ENST00000525372.5:n.1021_1032dup
ENST00000526275.5:n.1705_1716dup
ENST00000527992.5:n.1151_1162dup
ENST00000529510.5:n.611_622dup
ENST00000530407.5:n.1073_1084dup
ENST00000532085.1:n.4304_4315dup
ENST00000538950.5:c.704_715dup ENSP00000475991.2:p.Met238_Thr239insMetAl...
ENST00000545985.5:c.923_934dup ENSP00000475241.2:p.Met311_Thr312insMetAl...
NM_001164277.1:c.923_934dup , LRG_187t1:c.923_934dup NP_001157749.1:p.Met311_Thr312insMetAlaGl...
NM_001164278.1:c.923_934dup NP_001157750.1:p.Met311_Thr312insMetAlaGl...
NM_001164279.1:c.704_715dup NP_001157751.1:p.Met238_Thr239insMetAlaGl...
NM_001164280.1:c.923_934dup NP_001157752.1:p.Met311_Thr312insMetAlaGl...
NM_001467.5:c.923_934dup NP_001458.1:p.Met311_Thr312insMetAlaGlyMe...
NM_001164278.2:c.923_934dup NP_001157750.1:p.Met311_Thr312insMetAlaGl...
NM_001164279.2:c.704_715dup NP_001157751.1:p.Met238_Thr239insMetAlaGl...
NM_001164280.2:c.923_934dup NP_001157752.1:p.Met311_Thr312insMetAlaGl...
NM_001467.6:c.923_934dup NP_001458.1:p.Met311_Thr312insMetAlaGlyMe...
NM_001164277.2:c.923_934dup NP_001157749.1:p.Met311_Thr312insMetAlaGl...