Linked Data
ClinVar Variation Id:
208588
dbSNP Id:
rs749956849
ExAC:
6:137525491 TA / T
gnomAD v2:
6-137525491-TA-T
gnomAD v3:
6-137204354-TA-T
gnomAD v4:
6-137204354-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.137204355del , CM000668.2:g.137204355del | GRCh38 |
| NC_000006.11:g.137525492del , CM000668.1:g.137525492del | GRCh37 |
| NC_000006.10:g.137567185del | NCBI36 |
| NG_007394.1:g.20076del , LRG_66:g.20076del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000414770.6:c.493del | ENSP00000394230.2:p.Tyr165MetfsTer2 | |
| ENST00000458076.6:c.421del | ENSP00000389249.2:p.Tyr141MetfsTer2 | |
| ENST00000696693.1:c.400del | ENSP00000512814.1:p.Tyr134MetfsTer2 | |
| ENST00000696694.1:c.523del | ENSP00000512815.1:p.Tyr175MetfsTer2 | |
| ENST00000696695.1:c.523del | ENSP00000512816.1:p.Tyr175MetfsTer2 | |
| ENST00000696696.1:c.*422del | ENSP00000512817.1:n.*422del | |
| ENST00000696697.1:c.469del | ENSP00000512818.1:p.Tyr157MetfsTer2 | |
| ENST00000696698.1:c.523del | ENSP00000512819.1:p.Tyr175MetfsTer2 | |
| ENST00000696699.1:c.439del | ENSP00000512820.1:p.Tyr147MetfsTer2 | |
| ENST00000367739.9:c.523del MANE Select | ENSP00000356713.5:p.Tyr175MetfsTer2 | |
| ENST00000642390.1:c.466del | ENSP00000496468.1:p.Tyr156MetfsTer2 | |
| ENST00000643119.1:c.643del | ENSP00000495934.1:n.643del | |
| ENST00000644894.1:c.400del | ENSP00000495272.1:p.Tyr134MetfsTer2 | |
| ENST00000645045.1:c.632del | ||
| ENST00000645753.1:c.400del | ENSP00000495103.1:p.Tyr134MetfsTer2 | |
| ENST00000646036.1:c.493del | ENSP00000496387.1:p.Tyr165MetfsTer2 | |
| ENST00000646898.1:c.493del | ENSP00000494069.1:p.Tyr165MetfsTer2 | |
| ENST00000647124.1:c.400del | ENSP00000496549.1:p.Tyr134MetfsTer2 | |
| ENST00000367739.8:c.523del | ENSP00000356713.4:p.Tyr175MetfsTer2 | |
| ENST00000458076.5:c.421del | ENSP00000389249.1:p.Tyr141MetfsTer2 | |
| ENST00000543628.5:c.523del | ENSP00000443282.2:p.Tyr175MetfsTer2 | |
| NM_000416.2:c.523del , LRG_66t1:c.523del | NP_000407.1:p.Tyr175MetfsTer2 | |
| XM_006715470.2:c.493del | XP_006715533.1:p.Tyr165MetfsTer2 | |
| XM_006715471.2:c.400del | XP_006715534.1:p.Tyr134MetfsTer2 | |
| XM_011535793.1:c.493del | XP_011534095.1:p.Tyr165MetfsTer2 | |
| XM_011535794.1:c.493del | XP_011534096.1:p.Tyr165MetfsTer2 | |
| NM_001363526.1:c.493del | NP_001350455.1:p.Tyr165MetfsTer2 | |
| NM_001363527.1:c.400del | NP_001350456.1:p.Tyr134MetfsTer2 | |
| XM_006715470.3:c.493del | XP_006715533.1:p.Tyr165MetfsTer2 | |
| XM_011535793.2:c.493del | XP_011534095.1:p.Tyr165MetfsTer2 | |
| NM_000416.3:c.523del MANE Select | NP_000407.1:p.Tyr175MetfsTer2 |