Linked Data
ClinVar Variation Id:
552881
ClinVar RCV Id:
RCV000668227
dbSNP Id:
rs1554901463
gnomAD v4:
11-6614616-CCAGGACCAGAG-C
MyVariant Identifiers:
chr11:g.6614617_6614627del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6614620_6614630del , CM000673.2:g.6614620_6614630del | GRCh38 |
| NC_000011.9:g.6635851_6635861del , CM000673.1:g.6635851_6635861del | GRCh37 |
| NC_000011.8:g.6592427_6592437del | NCBI36 |
| NG_008653.1:g.9835_9845del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.1497_1507del | ENSP00000507321.1:p.Cys499TrpfsTer? | |
| ENST00000299427.12:c.1611_1621del MANE Select | ENSP00000299427.6:p.Cys537TrpfsTer? | |
| ENST00000524611.2:n.650_660del | ||
| ENST00000524924.2:n.731_741del | ||
| ENST00000533371.6:c.882_892del | ENSP00000437066.1:p.Cys294TrpfsTer? | |
| ENST00000642892.1:c.882_892del | ENSP00000494165.1:p.Cys294TrpfsTer? | |
| ENST00000643342.1:c.684_694del | ||
| ENST00000643439.1:c.*1351_*1361del | ENSP00000495849.1:n.*1351_*1361del | |
| ENST00000643479.1:n.1797_1807del | ||
| ENST00000643516.1:c.1120_1130del | ||
| ENST00000644218.1:c.1422_1432del | ENSP00000493574.1:p.Cys474TrpfsTer? | |
| ENST00000644683.1:c.*1064_*1074del | ENSP00000494085.1:n.*1064_*1074del | |
| ENST00000644810.1:c.1332_1342del | ENSP00000495895.1:p.Cys444TrpfsTer? | |
| ENST00000644831.1:n.1787_1797del | ||
| ENST00000644933.1:c.*477_*487del | ENSP00000496133.1:n.*477_*487del | |
| ENST00000645285.1:c.*477_*487del | ENSP00000495058.1:n.*477_*487del | |
| ENST00000645331.1:n.2816_2826del | ||
| ENST00000645620.1:c.882_892del | ENSP00000493657.1:p.Cys294TrpfsTer? | |
| ENST00000646691.1:n.1498_1508del | ||
| ENST00000646777.1:n.1944_1954del | ||
| ENST00000647016.1:n.2091_2101del | ||
| ENST00000647152.1:c.882_892del | ENSP00000495893.1:p.Cys294TrpfsTer? | |
| ENST00000647209.1:c.*1480_*1490del | ENSP00000495558.1:n.*1480_*1490del | |
| ENST00000647346.1:n.2631_2641del | ||
| ENST00000299427.10:c.1611_1621del | ENSP00000299427.6:p.Cys537TrpfsTer? | |
| ENST00000533371.5:c.882_892del | ENSP00000437066.1:p.Cys294TrpfsTer? | |
| ENST00000611494.4:c.1611_1621del | ENSP00000484546.1:p.Cys537TrpfsTer24 | |
| NM_000391.3:c.1611_1621del | NP_000382.3:p.Cys537TrpfsTer? | |
| NM_000391.4:c.1611_1621del MANE Select | NP_000382.3:p.Cys537TrpfsTer? |