Linked Data
ClinVar Variation Id:
553880
ClinVar RCV Id:
RCV000669414
dbSNP Id:
rs1555145646
gnomAD v3:
11-71435798-CG-C
gnomAD v4:
11-71435798-CG-C
MyVariant Identifiers:
chr11:g.71435799del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71435802del , CM000673.2:g.71435802del | GRCh38 |
| NC_000011.9:g.71146848del , CM000673.1:g.71146848del | GRCh37 |
| NC_000011.8:g.70824496del | NCBI36 |
| NG_012655.2:g.17633del , LRG_340:g.17633del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525346.6:c.1004del | ENSP00000435707.3:p.Pro335ArgfsTer? | |
| ENST00000526780.6:c.1004del | ENSP00000435668.2:p.Pro335ArgfsTer? | |
| ENST00000527316.6:c.830del | ENSP00000435047.2:p.Pro277ArgfsTer? | |
| ENST00000682708.1:c.1055del | ENSP00000506866.1:p.Pro352ArgfsTer? | |
| ENST00000683287.1:c.1040del | ENSP00000507607.1:p.Pro347ArgfsTer? | |
| ENST00000683714.1:c.1012del | ENSP00000508207.1:p.Arg338AlafsTer? | |
| ENST00000684396.1:n.1044del | ||
| ENST00000685320.1:c.419del | ENSP00000509319.1:p.Pro140ArgfsTer? | |
| ENST00000690257.1:c.908del | ENSP00000510750.1:p.Pro303ArgfsTer? | |
| ENST00000355527.8:c.1004del MANE Select | ENSP00000347717.4:p.Pro335ArgfsTer? | |
| ENST00000355527.7:c.1004del | ENSP00000347717.3:p.Pro335ArgfsTer? | |
| ENST00000407721.6:c.1004del | ENSP00000384739.2:p.Pro335ArgfsTer? | |
| ENST00000525137.1:c.505del | ENSP00000435956.1:p.Arg169AlafsTer? | |
| ENST00000533800.5:c.254del | ENSP00000435011.1:p.Pro85ArgfsTer? | |
| ENST00000534795.5:c.319+2013del | ||
| NM_001163817.1:c.1004del | NP_001157289.1:p.Pro335ArgfsTer? | |
| NM_001360.2:c.1004del , LRG_340t1:c.1004del | NP_001351.2:p.Pro335ArgfsTer? | |
| XM_011544777.1:c.1138del | XP_011543079.1:p.Arg380AlafsTer? | |
| XM_011544777.2:c.1138del | XP_011543079.1:p.Arg380AlafsTer? | |
| NM_001163817.2:c.1004del | NP_001157289.1:p.Pro335ArgfsTer? | |
| NM_001360.3:c.1004del MANE Select | NP_001351.2:p.Pro335ArgfsTer? |