Linked Data
ClinVar Variation Id:
143768
ClinVar RCV Id:
RCV000133314
dbSNP Id:
rs267608565
PubMed:
PMID:21770923
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18604003del , CM000685.2:g.18604003del | GRCh38 |
| NC_000023.10:g.18622123del , CM000685.1:g.18622123del | GRCh37 |
| NC_000023.9:g.18532044del | NCBI36 |
| NG_008475.1:g.183399del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000623535.2:c.1079del MANE Select | ENSP00000485244.1:p.Leu360ProfsTer8 | |
| ENST00000635828.1:c.1079del | ENSP00000490170.1:p.Leu360ProfsTer8 | |
| ENST00000637881.1:c.1079del | ENSP00000489879.1:p.Leu360ProfsTer8 | |
| ENST00000674046.1:c.1079del | ENSP00000501174.1:p.Leu360ProfsTer8 | |
| ENST00000379989.6:c.1079del | ENSP00000369325.3:p.Leu360ProfsTer8 | |
| ENST00000379996.7:c.1079del | ENSP00000369332.3:p.Leu360ProfsTer8 | |
| ENST00000463994.4:c.1079del | ENSP00000485184.1:p.Leu360ProfsTer8 | |
| ENST00000623535.1:c.1079del | ENSP00000485244.1:p.Leu360ProfsTer8 | |
| NM_001037343.1:c.1079del | NP_001032420.1:p.Leu360ProfsTer8 | |
| NM_003159.2:c.1079del | NP_003150.1:p.Leu360ProfsTer8 | |
| XM_011545569.1:c.1028del | XP_011543871.1:p.Leu343ProfsTer8 | |
| XM_011545570.1:c.947del | XP_011543872.1:p.Leu316ProfsTer8 | |
| XR_950484.1:n.1331del | ||
| NM_001323289.1:c.1079del | NP_001310218.1:p.Leu360ProfsTer8 | |
| NM_001323289.2:c.1079del MANE Select | NP_001310218.1:p.Leu360ProfsTer8 | |
| NM_001037343.2:c.1079del | NP_001032420.1:p.Leu360ProfsTer8 | |
| NM_003159.3:c.1079del | NP_003150.1:p.Leu360ProfsTer8 |