Linked Data
ClinVar Variation Id:
189592
ClinVar RCV Id:
RCV003765059
dbSNP Id:
rs786204987
PubMed:
PMID:23064044
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18584305_18584306del , CM000685.2:g.18584305_18584306del | GRCh38 |
| NC_000023.10:g.18602425_18602426del , CM000685.1:g.18602425_18602426del | GRCh37 |
| NC_000023.9:g.18512346_18512347del | NCBI36 |
| NG_008475.1:g.163701_163702del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000623535.2:c.506_507del MANE Select | ENSP00000485244.1:p.Thr169ArgfsTer? | |
| ENST00000635828.1:c.506_507del | ENSP00000490170.1:p.Thr169ArgfsTer? | |
| ENST00000637881.1:c.506_507del | ENSP00000489879.1:p.Thr169ArgfsTer? | |
| ENST00000674046.1:c.506_507del | ENSP00000501174.1:p.Thr169ArgfsTer? | |
| ENST00000379989.6:c.506_507del | ENSP00000369325.3:p.Thr169ArgfsTer? | |
| ENST00000379996.7:c.506_507del | ENSP00000369332.3:p.Thr169ArgfsTer? | |
| ENST00000463994.4:c.506_507del | ENSP00000485184.1:p.Thr169ArgfsTer? | |
| ENST00000623535.1:c.506_507del | ENSP00000485244.1:p.Thr169ArgfsTer? | |
| NM_001037343.1:c.506_507del | NP_001032420.1:p.Thr169ArgfsTer? | |
| NM_003159.2:c.506_507del | NP_003150.1:p.Thr169ArgfsTer? | |
| XM_011545569.1:c.506_507del | XP_011543871.1:p.Thr169ArgfsTer? | |
| XM_011545570.1:c.374_375del | XP_011543872.1:p.Thr125ArgfsTer? | |
| XR_950484.1:n.758_759del | ||
| NM_001323289.1:c.506_507del | NP_001310218.1:p.Thr169ArgfsTer? | |
| NM_001323289.2:c.506_507del MANE Select | NP_001310218.1:p.Thr169ArgfsTer? | |
| NM_001037343.2:c.506_507del | NP_001032420.1:p.Thr169ArgfsTer? | |
| NM_003159.3:c.506_507del | NP_003150.1:p.Thr169ArgfsTer? |