Linked Data
ClinVar Variation Id:
376265
ClinVar RCV Id:
RCV000418174
dbSNP Id:
rs1057519844
PubMed:
PMID:25157968
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112839522_112839541del , CM000667.2:g.112839522_112839541del | GRCh38 |
| NC_000005.9:g.112175219_112175238del , CM000667.1:g.112175219_112175238del | GRCh37 |
| NC_000005.8:g.112203118_112203137del | NCBI36 |
| NG_008481.4:g.152002_152021del , LRG_130:g.152002_152021del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000502371.3:c.3593_3612del | ENSP00000484935.2:n.3593_3612del | |
| ENST00000504915.3:c.3982_4001del | ENSP00000473355.2:p.Lys1328Ter | |
| ENST00000505350.2:c.*3934_*3953del | ENSP00000481752.1:n.*3934_*3953del | |
| ENST00000507379.6:c.3874_3893del | ENSP00000423224.2:p.Lys1292Ter | |
| ENST00000509732.6:c.3928_3947del | ENSP00000426541.2:p.Lys1310Ter | |
| ENST00000512211.7:c.3928_3947del | ENSP00000423828.3:p.Lys1310Ter | |
| ENST00000257430.9:c.3928_3947del MANE Select | ENSP00000257430.4:p.Lys1310Ter | |
| ENST00000257430.8:c.3928_3947del | ENSP00000257430.4:p.Lys1310Ter | |
| ENST00000502371.2:c.2281_2300del | ||
| ENST00000508376.6:c.3928_3947del | ENSP00000427089.2:p.Lys1310Ter | |
| ENST00000508624.5:c.*3250_*3269del | ENSP00000424265.1:n.*3250_*3269del | |
| ENST00000520401.1:c.230+10550_230+10569del | ||
| NM_000038.5:c.3928_3947del | NP_000029.2:p.Lys1310Ter | |
| NM_001127510.2:c.3928_3947del | NP_001120982.1:p.Lys1310Ter | |
| NM_001127511.2:c.3874_3893del | NP_001120983.2:p.Lys1292Ter | |
| NM_001354895.1:c.3928_3947del | NP_001341824.1:p.Lys1310Ter | |
| NM_001354896.1:c.3982_4001del | NP_001341825.1:p.Lys1328Ter | |
| NM_001354897.1:c.3958_3977del | NP_001341826.1:p.Lys1320Ter | |
| NM_001354898.1:c.3853_3872del | NP_001341827.1:p.Lys1285Ter | |
| NM_001354899.1:c.3844_3863del | NP_001341828.1:p.Lys1282Ter | |
| NM_001354900.1:c.3805_3824del | NP_001341829.1:p.Lys1269Ter | |
| NM_001354901.1:c.3751_3770del | NP_001341830.1:p.Lys1251Ter | |
| NM_001354902.1:c.3655_3674del | NP_001341831.1:p.Lys1219Ter | |
| NM_001354903.1:c.3625_3644del | NP_001341832.1:p.Lys1209Ter | |
| NM_001354904.1:c.3550_3569del | NP_001341833.1:p.Lys1184Ter | |
| NM_001354905.1:c.3448_3467del | NP_001341834.1:p.Lys1150Ter | |
| NM_001354906.1:c.3079_3098del | NP_001341835.1:p.Lys1027Ter | |
| NM_000038.6:c.3928_3947del MANE Select | NP_000029.2:p.Lys1310Ter | |
| NM_001127510.3:c.3928_3947del | NP_001120982.1:p.Lys1310Ter | |
| NM_001127511.3:c.3874_3893del | NP_001120983.2:p.Lys1292Ter | |
| NM_001354895.2:c.3928_3947del | NP_001341824.1:p.Lys1310Ter | |
| NM_001354896.2:c.3982_4001del | NP_001341825.1:p.Lys1328Ter | |
| NM_001354897.2:c.3958_3977del | NP_001341826.1:p.Lys1320Ter | |
| NM_001354898.2:c.3853_3872del | NP_001341827.1:p.Lys1285Ter | |
| NM_001354899.2:c.3844_3863del | NP_001341828.1:p.Lys1282Ter | |
| NM_001354900.2:c.3805_3824del | NP_001341829.1:p.Lys1269Ter | |
| NM_001354901.2:c.3751_3770del | NP_001341830.1:p.Lys1251Ter | |
| NM_001354902.2:c.3655_3674del | NP_001341831.1:p.Lys1219Ter | |
| NM_001354903.2:c.3625_3644del | NP_001341832.1:p.Lys1209Ter | |
| NM_001354904.2:c.3550_3569del | NP_001341833.1:p.Lys1184Ter | |
| NM_001354905.2:c.3448_3467del | NP_001341834.1:p.Lys1150Ter | |
| NM_001354906.2:c.3079_3098del | NP_001341835.1:p.Lys1027Ter |