Canonical Allele Identifier: CA2839537702
Gene: SLC37A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119027680dup , CM000673.2:g.119027680dup GRCh38
NC_000011.9:g.118898390dup , CM000673.1:g.118898390dup GRCh37
NC_000011.8:g.118403600dup NCBI36
NG_013331.1:g.8226dup , LRG_187:g.8226dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000529510.6:n.803dup
ENST00000697845.1:n.727dup
ENST00000697846.1:n.803dup
ENST00000697847.1:n.803dup
ENST00000697848.1:n.803dup
ENST00000697849.1:n.1842dup
ENST00000697850.1:n.803dup
ENST00000697851.1:n.2163dup
ENST00000638186.1:n.877dup
ENST00000638360.1:n.709dup
ENST00000638925.1:n.810dup
ENST00000650539.1:n.979dup
ENST00000330775.9:c.573dup ENSP00000476242.2:p.Ala192CysfsTer2
ENST00000357590.9:c.573dup ENSP00000476176.2:p.Ala192CysfsTer2
ENST00000524428.5:n.895dup
ENST00000525039.5:n.997dup
ENST00000525102.5:n.1331dup
ENST00000525372.5:n.574dup
ENST00000526275.5:n.1355dup
ENST00000526626.6:n.536dup
ENST00000527992.5:n.801dup
ENST00000529510.5:n.399+514dup
ENST00000530407.5:n.723dup
ENST00000532085.1:n.3184dup
ENST00000532888.6:n.869dup
ENST00000538950.5:c.354dup ENSP00000475991.2:p.Ala119CysfsTer2
ENST00000545985.5:c.573dup ENSP00000475241.2:p.Ala192CysfsTer2
NM_001164277.1:c.573dup , LRG_187t1:c.573dup NP_001157749.1:p.Ala192CysfsTer2
NM_001164278.1:c.573dup NP_001157750.1:p.Ala192CysfsTer2
NM_001164279.1:c.354dup NP_001157751.1:p.Ala119CysfsTer2
NM_001164280.1:c.573dup NP_001157752.1:p.Ala192CysfsTer2
NM_001467.5:c.573dup NP_001458.1:p.Ala192CysfsTer2
NM_001164278.2:c.573dup NP_001157750.1:p.Ala192CysfsTer2
NM_001164279.2:c.354dup NP_001157751.1:p.Ala119CysfsTer2
NM_001164280.2:c.573dup NP_001157752.1:p.Ala192CysfsTer2
NM_001467.6:c.573dup NP_001458.1:p.Ala192CysfsTer2
NM_001164277.2:c.573dup MANE Select NP_001157749.1:p.Ala192CysfsTer2