Linked Data
ClinVar Variation Id:
10872
dbSNP Id:
rs606231185
gnomAD v4:
X-19358940-GGAAGTAA-G
PubMed:
PMID:7887408
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19358950_19358956del , CM000685.2:g.19358950_19358956del | GRCh38 |
| NC_000023.10:g.19377068_19377074del , CM000685.1:g.19377068_19377074del | GRCh37 |
| NC_000023.9:g.19286989_19286995del | NCBI36 |
| NG_016781.1:g.20058_20064del | |
| NG_021184.1:g.161315_161321del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355808.10:c.955_961del | ENSP00000348062.6:p.Ser319ValfsTer12 | |
| ENST00000379805.4:c.*626_*632del | ENSP00000369133.3:n.*626_*632del | |
| ENST00000417819.6:c.1018_1024del | ENSP00000404616.2:p.Ser340ValfsTer12 | |
| ENST00000423505.6:c.1048_1054del | ENSP00000406473.2:p.Ser350ValfsTer12 | |
| ENST00000481733.2:n.729_735del | ||
| ENST00000696704.1:c.*266_*272del | ENSP00000512823.1:n.*266_*272del | |
| ENST00000696705.1:c.*389_*395del | ENSP00000512824.1:n.*389_*395del | |
| ENST00000422285.7:c.934_940del MANE Select | ENSP00000394382.2:p.Ser312ValfsTer12 | |
| ENST00000379804.1:c.91_97del | ENSP00000369132.1:p.Ser31ValfsTer12 | |
| ENST00000379806.9:c.1048_1054del | ENSP00000369134.5:p.Ser350ValfsTer12 | |
| ENST00000422285.6:c.934_940del | ENSP00000394382.2:p.Ser312ValfsTer12 | |
| ENST00000478795.1:n.373_379del | ||
| ENST00000481733.1:n.362_368del | ||
| ENST00000540249.5:c.841_847del | ENSP00000440761.1:p.Ser281ValfsTer12 | |
| ENST00000545074.5:c.955_961del | ENSP00000438550.1:p.Ser319ValfsTer12 | |
| NM_000284.3:c.934_940del | NP_000275.1:p.Ser312ValfsTer12 | |
| NM_001173454.1:c.1048_1054del | NP_001166925.1:p.Ser350ValfsTer12 | |
| NM_001173455.1:c.955_961del | NP_001166926.1:p.Ser319ValfsTer12 | |
| NM_001173456.1:c.841_847del | NP_001166927.1:p.Ser281ValfsTer12 | |
| XM_011545531.1:c.1069_1075del | XP_011543833.1:p.Ser357ValfsTer12 | |
| XM_011545532.1:c.976_982del | XP_011543834.1:p.Ser326ValfsTer12 | |
| XM_017029574.2:c.955_961del | XP_016885063.1:p.Ser319ValfsTer12 | |
| NM_000284.4:c.934_940del MANE Select | NP_000275.1:p.Ser312ValfsTer12 | |
| NM_001173454.2:c.1048_1054del | NP_001166925.1:p.Ser350ValfsTer12 | |
| NM_001173455.2:c.955_961del | NP_001166926.1:p.Ser319ValfsTer12 | |
| NM_001173456.2:c.841_847del | NP_001166927.1:p.Ser281ValfsTer12 |