Linked Data
ClinVar Variation Id:
143406
ClinVar RCV Id:
RCV000012595
RCV000132932
RCV000170102
RCV000169932
RCV000169931
RCV000170103
RCV000415090
RCV000491803
RCV000624849
RCV000768267
RCV001420272
RCV001002125
RCV003989323
RCV004528867
dbSNP Id:
rs61752992
ERepo:
CA198846/MONDO:0010726/016
PubMed:
PMID:8177735
PMID:10508514
PMID:10854091
PMID:11035019
PMID:11055898
PMID:11058114
PMID:11227330
PMID:11738883
PMID:12111643
PMID:12615169
PMID:12966523
PMID:15057977
PMID:15558314
PMID:16169931
PMID:16473305
PMID:16690727
PMID:16832102
PMID:16844334
PMID:17236109
PMID:17267601
PMID:17351020
PMID:17387578
PMID:18337588
PMID:19652677
PMID:20151026
PMID:21154482
PMID:21982064
PMID:23421866
PMID:23921973
PMID:24458799
PMID:26795593
PMID:27354166
PMID:27799067
PMID:28263302
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154030627_154030670del , CM000685.2:g.154030627_154030670del | GRCh38 |
| NC_000023.10:g.153296078_153296121del , CM000685.1:g.153296078_153296121del | GRCh37 |
| NC_000023.9:g.152949272_152949315del | NCBI36 |
| NG_007107.2:g.111464_111507del | |
| NG_007107.3:g.111440_111483del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303391.11:c.1164_1207del MANE Plus Clinical | ENSP00000301948.6:p.Pro389Ter | |
| ENST00000453960.7:c.1200_1243del MANE Select | ENSP00000395535.2:p.Pro401Ter | |
| ENST00000303391.10:c.1164_1207del | ENSP00000301948.6:p.Pro389Ter | |
| ENST00000407218.5:c.*536_*579del | ENSP00000384865.2:n.*536_*579del | |
| ENST00000453960.6:c.1200_1243del | ENSP00000395535.2:p.Pro401Ter | |
| ENST00000619732.4:c.1164_1207del | ENSP00000480973.1:p.Pro389Ter | |
| ENST00000628176.2:c.*536_*579del | ENSP00000486978.1:n.*536_*579del | |
| NM_001110792.1:c.1200_1243del | NP_001104262.1:p.Pro401Ter | |
| NM_001316337.1:c.885_928del | NP_001303266.1:p.Pro296Ter | |
| NM_004992.3:c.1164_1207del | NP_004983.1:p.Pro389Ter | |
| XM_005274681.3:c.1164_1207del | XP_005274738.1:p.Pro389Ter | |
| XM_005274682.3:c.885_928del | XP_005274739.1:p.Pro296Ter | |
| XM_005274683.3:c.885_928del | XP_005274740.1:p.Pro296Ter | |
| XM_006724819.2:c.495_538del | XP_006724882.1:p.Pro166Ter | |
| XM_011531166.1:c.885_928del | XP_011529468.1:p.Pro296Ter | |
| XM_006724819.3:c.495_538del | XP_006724882.1:p.Pro166Ter | |
| XM_011531166.2:c.885_928del | XP_011529468.1:p.Pro296Ter | |
| XM_024452383.1:c.885_928del | XP_024308151.1:p.Pro296Ter | |
| XM_024452384.1:c.885_928del | XP_024308152.1:p.Pro296Ter | |
| NM_001110792.2:c.1200_1243del MANE Select | NP_001104262.1:p.Pro401Ter | |
| NM_001316337.2:c.885_928del | NP_001303266.1:p.Pro296Ter | |
| NM_001369391.2:c.885_928del | NP_001356320.1:p.Pro296Ter | |
| NM_001369392.2:c.885_928del | NP_001356321.1:p.Pro296Ter | |
| NM_001369393.2:c.885_928del | NP_001356322.1:p.Pro296Ter | |
| NM_001369394.1:c.885_928del | NP_001356323.1:p.Pro296Ter | |
| NM_001369394.2:c.885_928del | NP_001356323.1:p.Pro296Ter | |
| NM_001386137.1:c.495_538del | NP_001373066.1:p.Pro166Ter | |
| NM_001386138.1:c.495_538del | NP_001373067.1:p.Pro166Ter | |
| NM_001386139.1:c.495_538del | NP_001373068.1:p.Pro166Ter | |
| NM_004992.4:c.1164_1207del MANE Plus Clinical | NP_004983.1:p.Pro389Ter |