Linked Data
ClinVar Variation Id:
189660
ClinVar RCV Id:
RCV000170144
dbSNP Id:
rs1557134779
PubMed:
PMID:23262346
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154030339_154030677del , CM000685.2:g.154030339_154030677del | GRCh38 |
| NC_000023.10:g.153295790_153296128del , CM000685.1:g.153295790_153296128del | GRCh37 |
| NC_000023.9:g.152948984_152949322del | NCBI36 |
| NG_007107.2:g.111452_111790del | |
| NG_007107.3:g.111428_111766del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303391.11:c.1152_*29del MANE Plus Clinical | ENSP00000301948.6:n.[c.1152_*29del;Pro385... | |
| ENST00000453960.7:c.1188_*29del MANE Select | ENSP00000395535.2:n.[c.1188_*29del;Pro397... | |
| ENST00000303391.10:c.1152_*29del | ENSP00000301948.6:n.[c.1152_*29del;Pro385... | |
| ENST00000453960.6:c.1188_*29del | ENSP00000395535.2:n.[c.1188_*29del;Pro397... | |
| ENST00000619732.4:c.1152_1486del | ||
| ENST00000628176.2:c.*524_*862del | ENSP00000486978.1:n.*524_*862del | |
| NM_001110792.1:c.1188_*29del | NP_001104262.1:n.[c.1188_*29del;Pro397Asn... | |
| NM_001316337.1:c.873_*29del | NP_001303266.1:n.[c.873_*29del;Pro292Asnf... | |
| NM_004992.3:c.1152_*29del | NP_004983.1:n.[c.1152_*29del;Pro385AsnfsT... | |
| XM_005274681.3:c.1152_*29del | XP_005274738.1:n.[c.1152_*29del;Pro385Asn... | |
| XM_005274682.3:c.873_*29del | XP_005274739.1:n.[c.873_*29del;Pro292Asnf... | |
| XM_005274683.3:c.873_*29del | XP_005274740.1:n.[c.873_*29del;Pro292Asnf... | |
| XM_006724819.2:c.483_*29del | XP_006724882.1:n.[c.483_*29del;Pro162Asnf... | |
| XM_011531166.1:c.873_*29del | XP_011529468.1:n.[c.873_*29del;Pro292Asnf... | |
| XM_006724819.3:c.483_*29del | XP_006724882.1:n.[c.483_*29del;Pro162Asnf... | |
| XM_011531166.2:c.873_*29del | XP_011529468.1:n.[c.873_*29del;Pro292Asnf... | |
| XM_024452383.1:c.873_*29del | XP_024308151.1:n.[c.873_*29del;Pro292Asnf... | |
| XM_024452384.1:c.873_*29del | XP_024308152.1:n.[c.873_*29del;Pro292Asnf... | |
| NM_001110792.2:c.1188_*29del MANE Select | NP_001104262.1:n.[c.1188_*29del;Pro397Asn... | |
| NM_001316337.2:c.873_*29del | NP_001303266.1:n.[c.873_*29del;Pro292Asnf... | |
| NM_001369391.2:c.873_*29del | NP_001356320.1:n.[c.873_*29del;Pro292Asnf... | |
| NM_001369392.2:c.873_*29del | NP_001356321.1:n.[c.873_*29del;Pro292Asnf... | |
| NM_001369393.2:c.873_*29del | NP_001356322.1:n.[c.873_*29del;Pro292Asnf... | |
| NM_001369394.1:c.873_*29del | NP_001356323.1:n.[c.873_*29del;Pro292Asnf... | |
| NM_001369394.2:c.873_*29del | NP_001356323.1:n.[c.873_*29del;Pro292Asnf... | |
| NM_001386137.1:c.483_*29del | NP_001373066.1:n.[c.483_*29del;Pro162Asnf... | |
| NM_001386138.1:c.483_*29del | NP_001373067.1:n.[c.483_*29del;Pro162Asnf... | |
| NM_001386139.1:c.483_*29del | NP_001373068.1:n.[c.483_*29del;Pro162Asnf... | |
| NM_004992.4:c.1152_*29del MANE Plus Clinical | NP_004983.1:n.[c.1152_*29del;Pro385AsnfsT... |