Linked Data
ClinVar Variation Id:
2830594
ClinVar RCV Id:
RCV003648338
dbSNP Id:
rs1253568733
gnomAD v2:
11-2604739-CTCTG-C
gnomAD v4:
11-2583509-CTCTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2583513_2583516del , CM000673.2:g.2583513_2583516del | GRCh38 |
| NC_000011.9:g.2604743_2604746del , CM000673.1:g.2604743_2604746del | GRCh37 |
| NC_000011.8:g.2561319_2561322del | NCBI36 |
| NG_008935.1:g.143523_143526del , LRG_287:g.143523_143526del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.739_742del | ENSP00000434560.2:p.Val247LeufsTer? | |
| ENST00000646564.2:c.556_559del | ENSP00000495806.2:p.Val186LeufsTer? | |
| ENST00000155840.12:c.1000_1003del MANE Select | ENSP00000155840.2:p.Val334LeufsTer19 | |
| ENST00000335475.6:c.619_622del | ENSP00000334497.5:p.Val207LeufsTer19 | |
| ENST00000646564.1:c.202_205del | ENSP00000495806.1:p.Val68LeufsTer? | |
| ENST00000155840.9:c.1000_1003del | ENSP00000155840.2:p.Val334LeufsTer19 | |
| ENST00000335475.5:c.619_622del | ENSP00000334497.5:p.Val207LeufsTer19 | |
| NM_000218.2:c.1000_1003del , LRG_287t1:c.1000_1003del | NP_000209.2:p.Val334LeufsTer19 | |
| NM_181798.1:c.619_622del , LRG_287t2:c.619_622del | NP_861463.1:p.Val207LeufsTer19 | |
| NM_000218.3:c.1000_1003del MANE Select | NP_000209.2:p.Val334LeufsTer19 |