Linked Data
ClinVar Variation Id:
6926
ClinVar RCV Id:
RCV000007336
RCV000007337
RCV000624535
RCV000601076
RCV000723824
RCV002476940
RCV002279712
dbSNP Id:
rs80356491
ExAC:
11:118895980 CAG / C
gnomAD v2:
11-118895980-CAG-C
gnomAD v3:
11-119025270-CAG-C
gnomAD v4:
11-119025270-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119025271_119025272del , CM000673.2:g.119025271_119025272del | GRCh38 |
| NC_000011.9:g.118895981_118895982del , CM000673.1:g.118895981_118895982del | GRCh37 |
| NC_000011.8:g.118401191_118401192del | NCBI36 |
| NG_013331.1:g.10634_10635del , LRG_187:g.10634_10635del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.1252_1253del (SLC37A4) | ||
| ENST00000697845.1:n.2241_2242del (SLC37A4) | ||
| ENST00000697846.1:n.1614_1615del (SLC37A4) | ||
| ENST00000697847.1:n.1325_1326del (SLC37A4) | ||
| ENST00000697849.1:n.3718_3719del (SLC37A4) | ||
| ENST00000697850.1:n.1909_1910del (SLC37A4) | ||
| ENST00000697851.1:n.2880_2881del (SLC37A4) | ||
| ENST00000638186.1:n.1346_1347del (SLC37A4) | ||
| ENST00000638360.1:n.1178_1179del (SLC37A4) | ||
| ENST00000638925.1:n.1311_1312del (SLC37A4) | ||
| ENST00000650539.1:n.1514_1515del (SLC37A4) | ||
| ENST00000330775.9:c.1042_1043del (SLC37A4) | ENSP00000476242.2:p.Leu348ValfsTer? | |
| ENST00000357590.9:c.1108_1109del (SLC37A4) | ENSP00000476176.2:p.Leu370ValfsTer? | |
| ENST00000524428.5:n.1278_1279del (SLC37A4) | ||
| ENST00000525039.5:n.1532_1533del (SLC37A4) | ||
| ENST00000525102.5:n.1800_1801del (SLC37A4) | ||
| ENST00000525372.5:n.1140_1141del (SLC37A4) | ||
| ENST00000526275.5:n.1824_1825del (SLC37A4) | ||
| ENST00000527992.5:n.1270_1271del (SLC37A4) | ||
| ENST00000529510.5:n.730_731del (SLC37A4) | ||
| ENST00000530407.5:n.1192_1193del (SLC37A4) | ||
| ENST00000532085.1:n.5060_5061del (SLC37A4) | ||
| ENST00000533058.5:c.*222_*223del (TRAPPC4) | ENSP00000432920.1:n.*222_*223del | |
| ENST00000538950.5:c.823_824del (SLC37A4) | ENSP00000475991.2:p.Leu275ValfsTer? | |
| ENST00000545985.5:c.1042_1043del (SLC37A4) | ENSP00000475241.2:p.Leu348ValfsTer? | |
| NM_001164277.1:c.1042_1043del , LRG_187t1:c.1042_1043del (SLC37A4) | NP_001157749.1:p.Leu348ValfsTer? | |
| NM_001164278.1:c.1108_1109del (SLC37A4) | NP_001157750.1:p.Leu370ValfsTer? | |
| NM_001164279.1:c.823_824del (SLC37A4) | NP_001157751.1:p.Leu275ValfsTer? | |
| NM_001164280.1:c.1042_1043del (SLC37A4) | NP_001157752.1:p.Leu348ValfsTer? | |
| NM_001467.5:c.1042_1043del (SLC37A4) | NP_001458.1:p.Leu348ValfsTer? | |
| NM_001164278.2:c.1108_1109del (SLC37A4) | NP_001157750.1:p.Leu370ValfsTer? | |
| NM_001164279.2:c.823_824del (SLC37A4) | NP_001157751.1:p.Leu275ValfsTer? | |
| NM_001164280.2:c.1042_1043del (SLC37A4) | NP_001157752.1:p.Leu348ValfsTer? | |
| NM_001467.6:c.1042_1043del (SLC37A4) | NP_001458.1:p.Leu348ValfsTer? | |
| NM_001164277.2:c.1042_1043del (SLC37A4) MANE Select | NP_001157749.1:p.Leu348ValfsTer? |