Linked Data
dbSNP Id:
rs1212709729
gnomAD v2:
11-118895564-CAGAGCGTGCAGGGGG-C
gnomAD v3:
11-119024854-CAGAGCGTGCAGGGGG-C
gnomAD v4:
11-119024854-CAGAGCGTGCAGGGGG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119024856_119024870del , CM000673.2:g.119024856_119024870del | GRCh38 |
| NC_000011.9:g.118895566_118895580del , CM000673.1:g.118895566_118895580del | GRCh37 |
| NC_000011.8:g.118400776_118400790del | NCBI36 |
| NG_013331.1:g.11037_11051del , LRG_187:g.11037_11051del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000529510.6:n.1541_1555del (SLC37A4) | ||
| ENST00000697845.1:n.2530_2544del (SLC37A4) | ||
| ENST00000697846.1:n.1903_1917del (SLC37A4) | ||
| ENST00000697847.1:n.1614_1628del (SLC37A4) | ||
| ENST00000697849.1:n.4007_4021del (SLC37A4) | ||
| ENST00000697850.1:n.2198_2212del (SLC37A4) | ||
| ENST00000697851.1:n.3169_3183del (SLC37A4) | ||
| ENST00000638186.1:n.1635_1649del (SLC37A4) | ||
| ENST00000638360.1:n.1467_1481del (SLC37A4) | ||
| ENST00000638925.1:n.1600_1614del (SLC37A4) | ||
| ENST00000650539.1:n.1803_1817del (SLC37A4) | ||
| ENST00000330775.9:c.*41_*55del (SLC37A4) | ENSP00000476242.2:n.*41_*55del | |
| ENST00000357590.9:c.*41_*55del (SLC37A4) | ENSP00000476176.2:n.*41_*55del | |
| ENST00000525102.5:n.2089_2103del (SLC37A4) | ||
| ENST00000526275.5:n.2113_2127del (SLC37A4) | ||
| ENST00000527992.5:n.1559_1573del (SLC37A4) | ||
| ENST00000532085.1:n.5349_5363del (SLC37A4) | ||
| ENST00000533058.5:c.582-1_595del (TRAPPC4) | ||
| ENST00000538950.5:c.*41_*55del (SLC37A4) | ENSP00000475991.2:n.*41_*55del | |
| ENST00000545985.5:c.*41_*55del (SLC37A4) | ENSP00000475241.2:n.*41_*55del | |
| NM_001164277.1:c.*41_*55del , LRG_187t1:c.*41_*55del (SLC37A4) | NP_001157749.1:n.*41_*55del | |
| NM_001164278.1:c.*41_*55del (SLC37A4) | NP_001157750.1:n.*41_*55del | |
| NM_001164279.1:c.*41_*55del (SLC37A4) | NP_001157751.1:n.*41_*55del | |
| NM_001164280.1:c.*41_*55del (SLC37A4) | NP_001157752.1:n.*41_*55del | |
| NM_001467.5:c.*41_*55del (SLC37A4) | NP_001458.1:n.*41_*55del | |
| NM_001164278.2:c.*41_*55del (SLC37A4) | NP_001157750.1:n.*41_*55del | |
| NM_001164279.2:c.*41_*55del (SLC37A4) | NP_001157751.1:n.*41_*55del | |
| NM_001164280.2:c.*41_*55del (SLC37A4) | NP_001157752.1:n.*41_*55del | |
| NM_001467.6:c.*41_*55del (SLC37A4) | NP_001458.1:n.*41_*55del | |
| NM_001164277.2:c.*41_*55del (SLC37A4) MANE Select | NP_001157749.1:n.*41_*55del |