Canonical Allele Identifier: CA2975979776
Gene: SLC37A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119026644dup , CM000673.2:g.119026644dup GRCh38
NC_000011.9:g.118897354dup , CM000673.1:g.118897354dup GRCh37
NC_000011.8:g.118402564dup NCBI36
NG_013331.1:g.9262dup , LRG_187:g.9262dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000529510.6:n.1014+293dup
ENST00000697845.1:n.1231dup
ENST00000697846.1:n.1014+293dup
ENST00000697847.1:n.1059dup
ENST00000697848.1:n.1059dup
ENST00000697849.1:n.2346dup
ENST00000697850.1:n.1059dup
ENST00000697851.1:n.2667dup
ENST00000638186.1:n.1133dup
ENST00000638360.1:n.965dup
ENST00000638925.1:n.1066dup
ENST00000650539.1:n.1235dup
ENST00000330775.9:c.829dup ENSP00000476242.2:p.Ser277LysfsTer?
ENST00000357590.9:c.829dup ENSP00000476176.2:p.Ser277LysfsTer?
ENST00000524428.5:n.1106+293dup
ENST00000525039.5:n.1253dup
ENST00000525102.5:n.1587dup
ENST00000525372.5:n.830dup
ENST00000526275.5:n.1611dup
ENST00000527992.5:n.1057dup
ENST00000529510.5:n.558+293dup
ENST00000530407.5:n.979dup
ENST00000532085.1:n.3688dup
ENST00000538950.5:c.610dup ENSP00000475991.2:p.Ser204LysfsTer?
ENST00000545985.5:c.829dup ENSP00000475241.2:p.Ser277LysfsTer?
NM_001164277.1:c.829dup , LRG_187t1:c.829dup NP_001157749.1:p.Ser277LysfsTer?
NM_001164278.1:c.829dup NP_001157750.1:p.Ser277LysfsTer?
NM_001164279.1:c.610dup NP_001157751.1:p.Ser204LysfsTer?
NM_001164280.1:c.829dup NP_001157752.1:p.Ser277LysfsTer?
NM_001467.5:c.829dup NP_001458.1:p.Ser277LysfsTer?
NM_001164278.2:c.829dup NP_001157750.1:p.Ser277LysfsTer?
NM_001164279.2:c.610dup NP_001157751.1:p.Ser204LysfsTer?
NM_001164280.2:c.829dup NP_001157752.1:p.Ser277LysfsTer?
NM_001467.6:c.829dup NP_001458.1:p.Ser277LysfsTer?
NM_001164277.2:c.829dup MANE Select NP_001157749.1:p.Ser277LysfsTer?