Linked Data
ClinVar Variation Id:
551005
ClinVar RCV Id:
RCV000665954
dbSNP Id:
rs1554901576
gnomAD v4:
11-6615227-CAG-C
MyVariant Identifiers:
chr11:g.6615228_6615229del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6615229_6615230del , CM000673.2:g.6615229_6615230del | GRCh38 |
| NC_000011.9:g.6636460_6636461del , CM000673.1:g.6636460_6636461del | GRCh37 |
| NC_000011.8:g.6593036_6593037del | NCBI36 |
| NG_008653.1:g.9233_9234del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.1253_1254del | ENSP00000507321.1:p.Ser418Ter | |
| ENST00000299427.12:c.1367_1368del MANE Select | ENSP00000299427.6:p.Ser456Ter | |
| ENST00000524611.2:n.227_228del | ||
| ENST00000524924.2:n.487_488del | ||
| ENST00000533371.6:c.638_639del | ENSP00000437066.1:p.Ser213Ter | |
| ENST00000642892.1:c.638_639del | ENSP00000494165.1:p.Ser213Ter | |
| ENST00000643342.1:c.440_441del | ||
| ENST00000643439.1:c.*1107_*1108del | ENSP00000495849.1:n.*1107_*1108del | |
| ENST00000643479.1:n.1553_1554del | ||
| ENST00000643516.1:c.876_877del | ||
| ENST00000644218.1:c.1178_1179del | ENSP00000493574.1:p.Ser393Ter | |
| ENST00000644683.1:c.*820_*821del | ENSP00000494085.1:n.*820_*821del | |
| ENST00000644810.1:c.1088_1089del | ENSP00000495895.1:p.Ser363Ter | |
| ENST00000644831.1:n.1543_1544del | ||
| ENST00000644933.1:c.*233_*234del | ENSP00000496133.1:n.*233_*234del | |
| ENST00000645285.1:c.*233_*234del | ENSP00000495058.1:n.*233_*234del | |
| ENST00000645331.1:n.2572_2573del | ||
| ENST00000645620.1:c.638_639del | ENSP00000493657.1:p.Ser213Ter | |
| ENST00000646691.1:n.1254_1255del | ||
| ENST00000646777.1:n.1700_1701del | ||
| ENST00000647016.1:n.1847_1848del | ||
| ENST00000647152.1:c.638_639del | ENSP00000495893.1:p.Ser213Ter | |
| ENST00000647209.1:c.*1236_*1237del | ENSP00000495558.1:n.*1236_*1237del | |
| ENST00000647346.1:n.2387_2388del | ||
| ENST00000299427.10:c.1367_1368del | ENSP00000299427.6:p.Ser456Ter | |
| ENST00000524611.1:n.245_246del | ||
| ENST00000532191.1:n.420_421del | ||
| ENST00000533371.5:c.638_639del | ENSP00000437066.1:p.Ser213Ter | |
| ENST00000611494.4:c.1367_1368del | ENSP00000484546.1:p.Ser456Ter | |
| NM_000391.3:c.1367_1368del | NP_000382.3:p.Ser456Ter | |
| NM_000391.4:c.1367_1368del MANE Select | NP_000382.3:p.Ser456Ter |