Linked Data
dbSNP Id:
rs778641698
ExAC:
11:111965486 CTG / C
gnomAD v2:
11-111965486-CTG-C
gnomAD v3:
11-112094762-CTG-C
gnomAD v4:
11-112094762-CTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112094765_112094766del , CM000673.2:g.112094765_112094766del | GRCh38 |
| NC_000011.9:g.111965489_111965490del , CM000673.1:g.111965489_111965490del | GRCh37 |
| NC_000011.8:g.111470699_111470700del | NCBI36 |
| NG_012337.2:g.12919_12920del | |
| NG_012337.3:g.12919_12920del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000530923.6:c.*54-40_*54-39del | ENSP00000432946.2:n.*54-40_*54-39del | |
| ENST00000534010.2:c.314+5754_314+5755del | ENSP00000433202.2:n.314+5754_314+5755del | |
| ENST00000375549.8:c.315-40_315-39del MANE Select | ENSP00000364699.3:n.315-40_315-39del | |
| ENST00000528021.6:c.314+5754_314+5755del | ENSP00000432465.1:n.314+5754_314+5755del | |
| ENST00000375549.7:c.315-40_315-39del | ENSP00000364699.3:n.315-40_315-39del | |
| ENST00000525291.5:c.198-40_198-39del | ENSP00000436669.1:n.198-40_198-39del | |
| ENST00000525987.5:n.319+5754_319+5755del | ||
| ENST00000526592.5:c.*13-40_*13-39del | ENSP00000432005.1:n.*13-40_*13-39del | |
| ENST00000528021.5:c.314+5754_314+5755del | ENSP00000432465.1:n.314+5754_314+5755del | |
| ENST00000528048.5:c.170-40_170-39del | ENSP00000436217.1:n.170-40_170-39del | |
| ENST00000528182.5:c.308-40_308-39del | ENSP00000435475.1:n.308-40_308-39del | |
| ENST00000530923.5:c.359-40_359-39del | ||
| ENST00000531744.5:c.314+5754_314+5755del | ENSP00000456957.1:n.314+5754_314+5755del | |
| ENST00000532699.1:c.314+5754_314+5755del | ENSP00000456434.1:n.314+5754_314+5755del | |
| ENST00000534010.1:c.145+5754_145+5755del | ||
| NM_001276503.1:c.170-40_170-39del | NP_001263432.1:n.170-40_170-39del | |
| NM_001276504.1:c.198-40_198-39del | NP_001263433.1:n.198-40_198-39del | |
| NM_001276506.1:c.*13-40_*13-39del | NP_001263435.1:n.*13-40_*13-39del | |
| NM_003002.3:c.315-40_315-39del | NP_002993.1:n.315-40_315-39del | |
| NR_077060.1:n.453-40_453-39del | ||
| NM_003002.4:c.315-40_315-39del MANE Select | NP_002993.1:n.315-40_315-39del | |
| NM_001276503.2:c.170-40_170-39del | NP_001263432.1:n.170-40_170-39del | |
| NM_001276504.2:c.198-40_198-39del | NP_001263433.1:n.198-40_198-39del | |
| NM_001276506.2:c.*13-40_*13-39del | NP_001263435.1:n.*13-40_*13-39del | |
| NR_077060.2:n.404-40_404-39del |