Linked Data
ClinVar Variation Id:
552451
ClinVar RCV Id:
RCV000667711
dbSNP Id:
rs1555145633
gnomAD v4:
11-71435784-ACGCCCACGG-A
MyVariant Identifiers:
chr11:g.71435785_71435793del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71435787_71435795del , CM000673.2:g.71435787_71435795del | GRCh38 |
| NC_000011.9:g.71146833_71146841del , CM000673.1:g.71146833_71146841del | GRCh37 |
| NC_000011.8:g.70824481_70824489del | NCBI36 |
| NG_012655.2:g.17639_17647del , LRG_340:g.17639_17647del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525346.6:c.1010_1018del | ENSP00000435707.3:p.Ala337_Gly339del | |
| ENST00000526780.6:c.1010_1018del | ENSP00000435668.2:p.Ala337_Gly339del | |
| ENST00000527316.6:c.836_844del | ENSP00000435047.2:p.Ala279_Gly281del | |
| ENST00000682708.1:c.1061_1069del | ENSP00000506866.1:p.Ala354_Gly356del | |
| ENST00000683287.1:c.1046_1054del | ENSP00000507607.1:p.Ala349_Gly351del | |
| ENST00000683714.1:c.1018_1026del | ENSP00000508207.1:p.Pro340_Ala342del | |
| ENST00000684396.1:n.1050_1058del | ||
| ENST00000685320.1:c.425_433del | ENSP00000509319.1:p.Ala142_Gly144del | |
| ENST00000690257.1:c.914_922del | ENSP00000510750.1:p.Ala305_Gly307del | |
| ENST00000355527.8:c.1010_1018del MANE Select | ENSP00000347717.4:p.Ala337_Gly339del | |
| ENST00000355527.7:c.1010_1018del | ENSP00000347717.3:p.Ala337_Gly339del | |
| ENST00000407721.6:c.1010_1018del | ENSP00000384739.2:p.Ala337_Gly339del | |
| ENST00000525137.1:c.511_519del | ENSP00000435956.1:p.Pro171_Ala173del | |
| ENST00000533800.5:c.260_268del | ENSP00000435011.1:p.Ala87_Gly89del | |
| ENST00000534795.5:c.319+2019_319+2027del | ||
| NM_001163817.1:c.1010_1018del | NP_001157289.1:p.Ala337_Gly339del | |
| NM_001360.2:c.1010_1018del , LRG_340t1:c.1010_1018del | NP_001351.2:p.Ala337_Gly339del | |
| XM_011544777.1:c.1144_1152del | XP_011543079.1:p.Pro382_Ala384del | |
| XM_011544777.2:c.1144_1152del | XP_011543079.1:p.Pro382_Ala384del | |
| NM_001163817.2:c.1010_1018del | NP_001157289.1:p.Ala337_Gly339del | |
| NM_001360.3:c.1010_1018del MANE Select | NP_001351.2:p.Ala337_Gly339del |