Linked Data
ClinVar Variation Id:
188850
ClinVar RCV Id:
RCV000169200
dbSNP Id:
rs778232650
ExAC:
11:6637641 TCTCCATAG / T
gnomAD v2:
11-6637641-TCTCCATAG-T
gnomAD v4:
11-6616410-TCTCCATAG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6616414_6616421del , CM000673.2:g.6616414_6616421del | GRCh38 |
| NC_000011.9:g.6637645_6637652del , CM000673.1:g.6637645_6637652del | GRCh37 |
| NC_000011.8:g.6594221_6594228del | NCBI36 |
| NG_008653.1:g.8044_8051del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682424.1:c.858_865del | ENSP00000507321.1:p.Ser286ArgfsTer2 | |
| ENST00000299427.12:c.972_979del MANE Select | ENSP00000299427.6:p.Ser324ArgfsTer2 | |
| ENST00000436873.7:c.313-344_313-337del | ||
| ENST00000533371.6:c.243_250del | ENSP00000437066.1:p.Ser81ArgfsTer2 | |
| ENST00000642892.1:c.243_250del | ENSP00000494165.1:p.Ser81ArgfsTer2 | |
| ENST00000643342.1:c.62_69del | ||
| ENST00000643439.1:c.*712_*719del | ENSP00000495849.1:n.*712_*719del | |
| ENST00000643479.1:n.1158_1165del | ||
| ENST00000643516.1:c.481_488del | ||
| ENST00000644218.1:c.886+243_886+250del | ENSP00000493574.1:n.886+243_886+250del | |
| ENST00000644683.1:c.*425_*432del | ENSP00000494085.1:n.*425_*432del | |
| ENST00000644810.1:c.693_700del | ENSP00000495895.1:p.Ser231ArgfsTer2 | |
| ENST00000644831.1:n.1148_1155del | ||
| ENST00000644933.1:c.243_250del | ENSP00000496133.1:p.Ser81ArgfsTer2 | |
| ENST00000645285.1:c.157+243_157+250del | ENSP00000495058.1:n.157+243_157+250del | |
| ENST00000645331.1:n.1495_1502del | ||
| ENST00000645620.1:c.243_250del | ENSP00000493657.1:p.Ser81ArgfsTer2 | |
| ENST00000646691.1:n.65_72del | ||
| ENST00000646777.1:n.1305_1312del | ||
| ENST00000647016.1:n.1452_1459del | ||
| ENST00000647152.1:c.243_250del | ENSP00000495893.1:p.Ser81ArgfsTer2 | |
| ENST00000647209.1:c.*841_*848del | ENSP00000495558.1:n.*841_*848del | |
| ENST00000647346.1:n.1992_1999del | ||
| ENST00000299427.10:c.972_979del | ENSP00000299427.6:p.Ser324ArgfsTer2 | |
| ENST00000533371.5:c.243_250del | ENSP00000437066.1:p.Ser81ArgfsTer2 | |
| ENST00000611494.4:c.972_979del | ENSP00000484546.1:p.Ser324ArgfsTer2 | |
| NM_000391.3:c.972_979del | NP_000382.3:p.Ser324ArgfsTer2 | |
| NM_000391.4:c.972_979del MANE Select | NP_000382.3:p.Ser324ArgfsTer2 |