Linked Data
ClinVar Variation Id:
10876
ClinVar RCV Id:
RCV000011623
dbSNP Id:
rs606231187
PubMed:
PMID:1907799
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19359553_19359572del , CM000685.2:g.19359553_19359572del | GRCh38 |
| NC_000023.10:g.19377671_19377690del , CM000685.1:g.19377671_19377690del | GRCh37 |
| NC_000023.9:g.19287592_19287611del | NCBI36 |
| NG_016781.1:g.20661_20680del | |
| NG_021184.1:g.160693_160712del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355808.10:c.1094_1113del | ENSP00000348062.6:p.Glu365GlyfsTer12 | |
| ENST00000379805.4:c.*765_*784del | ENSP00000369133.3:n.*765_*784del | |
| ENST00000417819.6:c.1157_1176del | ENSP00000404616.2:p.Glu386GlyfsTer12 | |
| ENST00000423505.6:c.1187_1206del | ENSP00000406473.2:p.Glu396GlyfsTer12 | |
| ENST00000481733.2:n.868_887del | ||
| ENST00000696704.1:c.*405_*424del | ENSP00000512823.1:n.*405_*424del | |
| ENST00000696705.1:c.*528_*547del | ENSP00000512824.1:n.*528_*547del | |
| ENST00000422285.7:c.1073_1092del MANE Select | ENSP00000394382.2:p.Glu358GlyfsTer12 | |
| ENST00000379804.1:c.230_249del | ENSP00000369132.1:p.Glu77GlyfsTer12 | |
| ENST00000379806.9:c.1187_1206del | ENSP00000369134.5:p.Glu396GlyfsTer12 | |
| ENST00000422285.6:c.1073_1092del | ENSP00000394382.2:p.Glu358GlyfsTer12 | |
| ENST00000478795.1:n.512_531del | ||
| ENST00000540249.5:c.980_999del | ENSP00000440761.1:p.Glu327GlyfsTer12 | |
| ENST00000545074.5:c.1094_1113del | ENSP00000438550.1:p.Glu365GlyfsTer12 | |
| NM_000284.3:c.1073_1092del | NP_000275.1:p.Glu358GlyfsTer12 | |
| NM_001173454.1:c.1187_1206del | NP_001166925.1:p.Glu396GlyfsTer12 | |
| NM_001173455.1:c.1094_1113del | NP_001166926.1:p.Glu365GlyfsTer12 | |
| NM_001173456.1:c.980_999del | NP_001166927.1:p.Glu327GlyfsTer12 | |
| XM_011545531.1:c.1208_1227del | XP_011543833.1:p.Glu403GlyfsTer12 | |
| XM_011545532.1:c.1115_1134del | XP_011543834.1:p.Glu372GlyfsTer12 | |
| XM_017029574.2:c.1094_1113del | XP_016885063.1:p.Glu365GlyfsTer12 | |
| NM_000284.4:c.1073_1092del MANE Select | NP_000275.1:p.Glu358GlyfsTer12 | |
| NM_001173454.2:c.1187_1206del | NP_001166925.1:p.Glu396GlyfsTer12 | |
| NM_001173455.2:c.1094_1113del | NP_001166926.1:p.Glu365GlyfsTer12 | |
| NM_001173456.2:c.980_999del | NP_001166927.1:p.Glu327GlyfsTer12 |