Linked Data
ClinVar Variation Id:
143369
ClinVar RCV Id:
RCV000012592
RCV000132895
RCV000168701
RCV000169930
RCV000170099
RCV000645107
RCV002251999
dbSNP Id:
rs267608327
PubMed:
PMID:10854091
PMID:11106359
PMID:11241840
PMID:11269512
PMID:11402105
PMID:11462237
PMID:11738883
PMID:11746022
PMID:11913567
PMID:12180070
PMID:12325033
PMID:12567420
PMID:12770674
PMID:15173251
PMID:15389714
PMID:16473305
PMID:16763963
PMID:17142618
PMID:17387578
PMID:20031356
PMID:21160487
PMID:21878110
PMID:22476991
PMID:23696494
PMID:23810759
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154030636_154030676del , CM000685.2:g.154030636_154030676del | GRCh38 |
| NC_000023.10:g.153296087_153296127del , CM000685.1:g.153296087_153296127del | GRCh37 |
| NC_000023.9:g.152949281_152949321del | NCBI36 |
| NG_007107.2:g.111457_111497del | |
| NG_007107.3:g.111433_111473del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303391.11:c.1157_1197del MANE Plus Clinical | ENSP00000301948.6:p.Leu386HisfsTer5 | |
| ENST00000453960.7:c.1193_1233del MANE Select | ENSP00000395535.2:p.Leu398HisfsTer5 | |
| ENST00000303391.10:c.1157_1197del | ENSP00000301948.6:p.Leu386HisfsTer5 | |
| ENST00000407218.5:c.*529_*569del | ENSP00000384865.2:n.*529_*569del | |
| ENST00000453960.6:c.1193_1233del | ENSP00000395535.2:p.Leu398HisfsTer5 | |
| ENST00000619732.4:c.1157_1197del | ENSP00000480973.1:p.Leu386HisfsTer5 | |
| ENST00000628176.2:c.*529_*569del | ENSP00000486978.1:n.*529_*569del | |
| NM_001110792.1:c.1193_1233del | NP_001104262.1:p.Leu398HisfsTer5 | |
| NM_001316337.1:c.878_918del | NP_001303266.1:p.Leu293HisfsTer5 | |
| NM_004992.3:c.1157_1197del | NP_004983.1:p.Leu386HisfsTer5 | |
| XM_005274681.3:c.1157_1197del | XP_005274738.1:p.Leu386HisfsTer5 | |
| XM_005274682.3:c.878_918del | XP_005274739.1:p.Leu293HisfsTer5 | |
| XM_005274683.3:c.878_918del | XP_005274740.1:p.Leu293HisfsTer5 | |
| XM_006724819.2:c.488_528del | XP_006724882.1:p.Leu163HisfsTer5 | |
| XM_011531166.1:c.878_918del | XP_011529468.1:p.Leu293HisfsTer5 | |
| XM_006724819.3:c.488_528del | XP_006724882.1:p.Leu163HisfsTer5 | |
| XM_011531166.2:c.878_918del | XP_011529468.1:p.Leu293HisfsTer5 | |
| XM_024452383.1:c.878_918del | XP_024308151.1:p.Leu293HisfsTer5 | |
| XM_024452384.1:c.878_918del | XP_024308152.1:p.Leu293HisfsTer5 | |
| NM_001110792.2:c.1193_1233del MANE Select | NP_001104262.1:p.Leu398HisfsTer5 | |
| NM_001316337.2:c.878_918del | NP_001303266.1:p.Leu293HisfsTer5 | |
| NM_001369391.2:c.878_918del | NP_001356320.1:p.Leu293HisfsTer5 | |
| NM_001369392.2:c.878_918del | NP_001356321.1:p.Leu293HisfsTer5 | |
| NM_001369393.2:c.878_918del | NP_001356322.1:p.Leu293HisfsTer5 | |
| NM_001369394.1:c.878_918del | NP_001356323.1:p.Leu293HisfsTer5 | |
| NM_001369394.2:c.878_918del | NP_001356323.1:p.Leu293HisfsTer5 | |
| NM_001386137.1:c.488_528del | NP_001373066.1:p.Leu163HisfsTer5 | |
| NM_001386138.1:c.488_528del | NP_001373067.1:p.Leu163HisfsTer5 | |
| NM_001386139.1:c.488_528del | NP_001373068.1:p.Leu163HisfsTer5 | |
| NM_004992.4:c.1157_1197del MANE Plus Clinical | NP_004983.1:p.Leu386HisfsTer5 |