Linked Data
ClinVar Variation Id:
144024
ClinVar RCV Id:
RCV000133533
dbSNP Id:
rs587777645
gnomAD v4:
17-76733173-CAAGAT-C
PubMed:
PMID:24626631
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.76733175_76733179del , CM000679.2:g.76733175_76733179del | GRCh38 |
| NC_000017.10:g.74729257_74729261del , CM000679.1:g.74729257_74729261del | GRCh37 |
| NC_000017.9:g.72240852_72240856del | NCBI36 |
| NG_032905.1:g.9234_9238del , LRG_640:g.9234_9238del | |
| NG_041790.1:g.11346_11350del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341249.11:c.282_286del MANE Select | ENSP00000341543.5:p.Gln94HisfsTer6 | |
| ENST00000341249.10:c.282_286del | ENSP00000341543.5:p.Gln94HisfsTer6 | |
| ENST00000586200.1:c.-35-118_-35-114del | ENSP00000465959.1:n.-35-118_-35-114del | |
| ENST00000586738.5:c.282_286del | ENSP00000468386.1:p.Gln94HisfsTer6 | |
| ENST00000586752.5:c.81_85del | ENSP00000466203.1:p.Gln27HisfsTer6 | |
| ENST00000587459.1:c.198_202del | ENSP00000466829.1:p.Gln66HisfsTer6 | |
| ENST00000588302.5:c.81_85del | ENSP00000468704.1:p.Gln27HisfsTer6 | |
| ENST00000588563.5:c.282_286del | ENSP00000467503.1:p.Gln94HisfsTer6 | |
| ENST00000588783.5:c.282_286del | ENSP00000466938.1:p.Gln94HisfsTer6 | |
| ENST00000588822.1:c.81_85del | ENSP00000465430.1:p.Gln27HisfsTer6 | |
| ENST00000588964.1:c.81_85del | ENSP00000467101.1:p.Gln27HisfsTer6 | |
| ENST00000589581.1:n.301_305del | ||
| ENST00000589977.5:c.282_286del | ENSP00000464965.1:p.Gln94HisfsTer6 | |
| ENST00000590964.5:c.81_85del | ENSP00000465890.1:p.Gln27HisfsTer6 | |
| ENST00000591571.5:c.81_85del | ENSP00000466614.1:p.Gln27HisfsTer6 | |
| ENST00000592849.5:c.282_286del | ENSP00000467527.1:p.Gln94HisfsTer6 | |
| ENST00000615984.4:c.282_286del | ENSP00000482599.1:p.Gln94HisfsTer6 | |
| NM_001080510.4:c.282_286del | NP_001073979.3:p.Gln94HisfsTer6 | |
| NM_001206983.2:c.282_286del | NP_001193912.1:p.Gln94HisfsTer6 | |
| NM_001206984.2:c.282_286del | NP_001193913.1:p.Gln94HisfsTer6 | |
| NM_001206985.2:c.81_85del | NP_001193914.1:p.Gln27HisfsTer6 | |
| NM_001206986.2:c.81_85del | NP_001193915.1:p.Gln27HisfsTer6 | |
| NM_001206987.2:c.81_85del | NP_001193916.1:p.Gln27HisfsTer6 | |
| NM_001302703.1:c.282_286del | NP_001289632.1:p.Gln94HisfsTer6 | |
| NM_001302704.1:c.81_85del | NP_001289633.1:p.Gln27HisfsTer6 | |
| NM_001302705.1:c.270_274del | NP_001289634.1:p.Gln90HisfsTer6 | |
| NR_038193.2:n.350-118_350-114del | ||
| XM_006721673.2:c.318_322del | XP_006721736.1:p.Gln106HisfsTer6 | |
| XM_006721674.2:c.282_286del | XP_006721737.1:p.Gln94HisfsTer6 | |
| XM_006721675.1:c.270_274del | XP_006721738.1:p.Gln90HisfsTer6 | |
| XM_006721676.2:c.270_274del | XP_006721739.1:p.Gln90HisfsTer6 | |
| XM_006721678.2:c.270_274del | XP_006721741.1:p.Gln90HisfsTer6 | |
| XM_006721679.2:c.249_253del | XP_006721742.1:p.Gln83HisfsTer6 | |
| XM_006721680.2:c.81_85del | XP_006721743.1:p.Gln27HisfsTer6 | |
| XM_011524282.1:c.270_274del | XP_011522584.1:p.Gln90HisfsTer6 | |
| XM_006721674.3:c.282_286del | XP_006721737.1:p.Gln94HisfsTer6 | |
| XM_006721676.3:c.270_274del | XP_006721739.1:p.Gln90HisfsTer6 | |
| XM_006721678.4:c.270_274del | XP_006721741.1:p.Gln90HisfsTer6 | |
| XM_006721679.3:c.249_253del | XP_006721742.1:p.Gln83HisfsTer6 | |
| XM_017024145.2:c.270_274del | XP_016879634.1:p.Gln90HisfsTer6 | |
| XM_017024146.1:c.354_358del | XP_016879635.1:p.Gln118HisfsTer6 | |
| XM_024450563.1:c.282_286del | XP_024306331.1:p.Gln94HisfsTer6 | |
| NM_001080510.5:c.282_286del MANE Select | NP_001073979.3:p.Gln94HisfsTer6 | |
| NM_001206983.3:c.282_286del | NP_001193912.1:p.Gln94HisfsTer6 | |
| NM_001206984.3:c.282_286del | NP_001193913.1:p.Gln94HisfsTer6 | |
| NM_001206985.3:c.81_85del | NP_001193914.1:p.Gln27HisfsTer6 | |
| NM_001206986.3:c.81_85del | NP_001193915.1:p.Gln27HisfsTer6 | |
| NM_001206987.3:c.81_85del | NP_001193916.1:p.Gln27HisfsTer6 | |
| NM_001302703.2:c.282_286del | NP_001289632.1:p.Gln94HisfsTer6 | |
| NM_001302704.2:c.81_85del | NP_001289633.1:p.Gln27HisfsTer6 | |
| NM_001302705.2:c.270_274del | NP_001289634.1:p.Gln90HisfsTer6 | |
| NM_001378348.1:c.282_286del | NP_001365277.1:p.Gln94HisfsTer6 | |
| NM_001378349.1:c.282_286del | NP_001365278.1:p.Gln94HisfsTer6 | |
| NM_001378350.1:c.270_274del | NP_001365279.1:p.Gln90HisfsTer6 | |
| NM_001378351.1:c.270_274del | NP_001365280.1:p.Gln90HisfsTer6 | |
| NM_001378352.1:c.270_274del | NP_001365281.1:p.Gln90HisfsTer6 | |
| NM_001378353.1:c.270_274del | NP_001365282.1:p.Gln90HisfsTer6 | |
| NM_001378354.1:c.81_85del | NP_001365283.1:p.Gln27HisfsTer6 |