Linked Data
ClinVar Variation Id:
45237
ClinVar RCV Id:
RCV000038393
dbSNP Id:
rs397517098
COSMIC:
COSM4170221
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55174777_55174785del , CM000669.2:g.55174777_55174785del | GRCh38 |
| NC_000007.13:g.55242470_55242478del , CM000669.1:g.55242470_55242478del | GRCh37 |
| NC_000007.12:g.55209964_55209972del | NCBI36 |
| NG_007726.3:g.160746_160754del , LRG_304:g.160746_160754del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450046.2:c.2081_2089del | ENSP00000413354.2:p.Leu694_Ala697delinsSe... | |
| ENST00000700145.1:c.589_597del | ||
| ENST00000275493.7:c.2240_2248del MANE Select | ENSP00000275493.2:p.Leu747_Ala750delinsSe... | |
| ENST00000275493.6:c.2240_2248del | ENSP00000275493.2:p.Leu747_Ala750delinsSe... | |
| ENST00000442591.5:c.*28+1849_*28+1857del | ENSP00000410031.1:n.*28+1849_*28+1857del | |
| ENST00000454757.6:c.2105_2113del | ENSP00000395243.3:p.Leu702_Ala705delinsSe... | |
| ENST00000455089.5:c.2105_2113del | ENSP00000415559.1:p.Leu702_Ala705delinsSe... | |
| NM_005228.3:c.2240_2248del , LRG_304t1:c.2240_2248del | NP_005219.2:p.Leu747_Ala750delinsSer | |
| NM_001346897.1:c.2105_2113del | NP_001333826.1:p.Leu702_Ala705delinsSer | |
| NM_001346898.1:c.2240_2248del | NP_001333827.1:p.Leu747_Ala750delinsSer | |
| NM_001346899.1:c.2105_2113del | NP_001333828.1:p.Leu702_Ala705delinsSer | |
| NM_001346900.1:c.2081_2089del | NP_001333829.1:p.Leu694_Ala697delinsSer | |
| NM_001346941.1:c.1439_1447del | NP_001333870.1:p.Leu480_Ala483delinsSer | |
| NM_005228.4:c.2240_2248del | NP_005219.2:p.Leu747_Ala750delinsSer | |
| NM_005228.5:c.2240_2248del MANE Select | NP_005219.2:p.Leu747_Ala750delinsSer | |
| NM_001346897.2:c.2105_2113del | NP_001333826.1:p.Leu702_Ala705delinsSer | |
| NM_001346898.2:c.2240_2248del | NP_001333827.1:p.Leu747_Ala750delinsSer | |
| NM_001346900.2:c.2081_2089del | NP_001333829.1:p.Leu694_Ala697delinsSer | |
| NM_001346941.2:c.1439_1447del | NP_001333870.1:p.Leu480_Ala483delinsSer | |
| NM_001346899.2:c.2105_2113del | NP_001333828.1:p.Leu702_Ala705delinsSer |