Linked Data
ClinVar Variation Id:
3756
ClinVar RCV Id:
RCV000003954
dbSNP Id:
rs2133941461
PubMed:
PMID:1733834
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.125815036_125815132del , CM000672.2:g.125815036_125815132del | GRCh38 |
| NC_000010.10:g.127503605_127503701del , CM000672.1:g.127503605_127503701del | GRCh37 |
| NC_000010.9:g.127493595_127493691del | NCBI36 |
| NG_011557.1:g.13139_13235del | |
| NG_011557.2:g.13139_13235del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000713579.1:c.148_244del | ||
| ENST00000368797.10:c.148_244del | ||
| ENST00000648119.1:c.148_244del | ||
| ENST00000648427.1:c.148_244del | ||
| ENST00000649275.1:c.77_173del | ||
| ENST00000649450.1:n.185_281del | ||
| ENST00000649536.1:c.148_244del | ||
| ENST00000650587.1:c.148_244del | ||
| ENST00000368774.1:c.148_244del | ||
| ENST00000368778.7:c.148_244del | ||
| ENST00000368786.5:c.148_244del | ||
| ENST00000368797.8:c.148_244del | ||
| ENST00000420761.5:c.64_160del | ||
| NM_000375.2:c.148_244del | ||
| XM_005270137.2:c.148_244del | ||
| XM_005270138.2:c.148_244del | ||
| XM_005270139.2:c.148_244del | ||
| XM_005270140.3:c.148_244del | ||
| XM_005270141.1:c.148_244del | ||
| XM_006717960.2:c.148_244del | ||
| XM_011540126.1:c.148_244del | ||
| XM_011540127.1:c.148_244del | ||
| XR_246103.2:n.256_352del | ||
| XR_945809.1:n.256_352del | ||
| XR_945810.1:n.256_352del | ||
| NM_000375.3:c.148_244del | ||
| NM_001324036.1:c.148_244del | ||
| NM_001324037.1:c.148_244del | ||
| NM_001324038.1:c.148_244del | ||
| NM_001324039.1:c.148_244del | ||
| NR_136675.1:n.329+1307_329+1403del | ||
| NR_136676.1:n.414_510del | ||
| NR_136677.1:n.414_510del | ||
| NR_136678.1:n.241-2842_241-2746del | ||
| XM_005270140.5:c.148_244del | ||
| XM_011540127.2:c.148_244del | ||
| XM_017016611.2:c.148_244del | ||
| XM_017016612.2:c.148_244del | ||
| XM_024448154.1:c.148_244del | ||
| XM_024448155.1:c.148_244del | ||
| XR_001747196.2:n.271_367del | ||
| XR_001747197.2:n.271_367del | ||
| XR_002957009.1:n.271_367del | ||
| XR_002957010.1:n.212_308del | ||
| XR_246103.3:n.271_367del | ||
| XR_945810.2:n.271_367del | ||
| NM_001324036.2:c.148_244del | ||
| NM_001324037.2:c.148_244del | ||
| NM_001324038.2:c.148_244del | ||
| NR_136675.2:n.319+1307_319+1403del | ||
| NR_136676.2:n.404_500del | ||
| NR_136678.2:n.231-2842_231-2746del | ||
| NM_001324039.2:c.148_244del | ||
| NR_136677.2:n.404_500del |