Linked Data
ClinVar Variation Id:
1074130
ClinVar RCV Id:
RCV003538776
dbSNP Id:
rs2149891437
PubMed:
PMID:17411426
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112839007del , CM000667.2:g.112839007del | GRCh38 |
| NC_000005.9:g.112174704del , CM000667.1:g.112174704del | GRCh37 |
| NC_000005.8:g.112202603del | NCBI36 |
| NG_008481.4:g.151487del , LRG_130:g.151487del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.3078del | ENSP00000484935.2:n.3078del | |
| ENST00000504915.3:c.3467del | ENSP00000473355.2:p.Asp1156ValfsTer27 | |
| ENST00000505350.2:c.*3419del | ENSP00000481752.1:n.*3419del | |
| ENST00000507379.6:c.3359del | ENSP00000423224.2:p.Asp1120ValfsTer27 | |
| ENST00000509732.6:c.3413del | ENSP00000426541.2:p.Asp1138ValfsTer27 | |
| ENST00000512211.7:c.3413del | ENSP00000423828.3:p.Asp1138ValfsTer27 | |
| ENST00000257430.9:c.3413del MANE Select | ENSP00000257430.4:p.Asp1138ValfsTer27 | |
| ENST00000257430.8:c.3413del | ENSP00000257430.4:p.Asp1138ValfsTer27 | |
| ENST00000502371.2:c.1766del | ||
| ENST00000507379.5:c.3359del | ENSP00000423224.1:p.Asp1120ValfsTer? | |
| ENST00000508376.6:c.3413del | ENSP00000427089.2:p.Asp1138ValfsTer27 | |
| ENST00000508624.5:c.*2735del | ENSP00000424265.1:n.*2735del | |
| ENST00000512211.6:c.3413del | ENSP00000423828.2:p.Asp1138ValfsTer27 | |
| ENST00000520401.1:c.230+10035del | ||
| NM_000038.5:c.3413del | NP_000029.2:p.Asp1138ValfsTer27 | |
| NM_001127510.2:c.3413del | NP_001120982.1:p.Asp1138ValfsTer27 | |
| NM_001127511.2:c.3359del | NP_001120983.2:p.Asp1120ValfsTer27 | |
| NM_001354895.1:c.3413del | NP_001341824.1:p.Asp1138ValfsTer27 | |
| NM_001354896.1:c.3467del | NP_001341825.1:p.Asp1156ValfsTer27 | |
| NM_001354897.1:c.3443del | NP_001341826.1:p.Asp1148ValfsTer27 | |
| NM_001354898.1:c.3338del | NP_001341827.1:p.Asp1113ValfsTer27 | |
| NM_001354899.1:c.3329del | NP_001341828.1:p.Asp1110ValfsTer27 | |
| NM_001354900.1:c.3290del | NP_001341829.1:p.Asp1097ValfsTer27 | |
| NM_001354901.1:c.3236del | NP_001341830.1:p.Asp1079ValfsTer27 | |
| NM_001354902.1:c.3140del | NP_001341831.1:p.Asp1047ValfsTer27 | |
| NM_001354903.1:c.3110del | NP_001341832.1:p.Asp1037ValfsTer27 | |
| NM_001354904.1:c.3035del | NP_001341833.1:p.Asp1012ValfsTer27 | |
| NM_001354905.1:c.2933del | NP_001341834.1:p.Asp978ValfsTer27 | |
| NM_001354906.1:c.2564del | NP_001341835.1:p.Asp855ValfsTer27 | |
| NM_000038.6:c.3413del MANE Select | NP_000029.2:p.Asp1138ValfsTer27 | |
| NM_001127510.3:c.3413del | NP_001120982.1:p.Asp1138ValfsTer27 | |
| NM_001127511.3:c.3359del | NP_001120983.2:p.Asp1120ValfsTer27 | |
| NM_001354895.2:c.3413del | NP_001341824.1:p.Asp1138ValfsTer27 | |
| NM_001354896.2:c.3467del | NP_001341825.1:p.Asp1156ValfsTer27 | |
| NM_001354897.2:c.3443del | NP_001341826.1:p.Asp1148ValfsTer27 | |
| NM_001354898.2:c.3338del | NP_001341827.1:p.Asp1113ValfsTer27 | |
| NM_001354899.2:c.3329del | NP_001341828.1:p.Asp1110ValfsTer27 | |
| NM_001354900.2:c.3290del | NP_001341829.1:p.Asp1097ValfsTer27 | |
| NM_001354901.2:c.3236del | NP_001341830.1:p.Asp1079ValfsTer27 | |
| NM_001354902.2:c.3140del | NP_001341831.1:p.Asp1047ValfsTer27 | |
| NM_001354903.2:c.3110del | NP_001341832.1:p.Asp1037ValfsTer27 | |
| NM_001354904.2:c.3035del | NP_001341833.1:p.Asp1012ValfsTer27 | |
| NM_001354905.2:c.2933del | NP_001341834.1:p.Asp978ValfsTer27 | |
| NM_001354906.2:c.2564del | NP_001341835.1:p.Asp855ValfsTer27 |