Linked Data
ClinVar Variation Id:
49304
dbSNP Id:
rs137854175
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2085001_2085004del , CM000678.2:g.2085001_2085004del | GRCh38 |
| NC_000016.9:g.2135002_2135005del , CM000678.1:g.2135002_2135005del | GRCh37 |
| NC_000016.8:g.2075003_2075006del | NCBI36 |
| NG_005895.1:g.40696_40699del , LRG_487:g.40696_40699del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000568566.6:c.*2893_*2896del | ENSP00000455997.2:n.*2893_*2896del | |
| ENST00000642206.2:c.4391_4394del | ENSP00000495146.2:p.Asn1464SerfsTer? | |
| ENST00000642365.2:c.4541_4544del | ENSP00000495459.2:p.Asn1514SerfsTer? | |
| ENST00000644417.2:c.*4924_*4927del | ENSP00000493912.2:n.*4924_*4927del | |
| ENST00000646464.2:c.*7293_*7296del | ENSP00000496610.2:n.*7293_*7296del | |
| ENST00000219476.9:c.4544_4547del MANE Select | ENSP00000219476.3:p.Asn1515SerfsTer? | |
| ENST00000350773.9:c.4475_4478del | ENSP00000344383.4:p.Asn1492SerfsTer? | |
| ENST00000401874.7:c.4343_4346del | ENSP00000384468.2:p.Asn1448SerfsTer? | |
| ENST00000568454.6:c.4376_4379del | ENSP00000454487.1:p.Asn1459SerfsTer? | |
| ENST00000569110.2:c.767_770del | ||
| ENST00000569930.2:n.2426_2429del | ||
| ENST00000642365.1:c.3198_3201del | ||
| ENST00000642561.1:c.4415_4418del | ENSP00000495099.1:p.Asn1472SerfsTer? | |
| ENST00000642728.1:n.726_729del | ||
| ENST00000642797.1:c.4346_4349del | ENSP00000493846.1:p.Asn1449SerfsTer? | |
| ENST00000642936.1:c.4412_4415del | ENSP00000494514.1:p.Asn1471SerfsTer? | |
| ENST00000643088.1:c.4343_4346del | ENSP00000494747.1:p.Asn1448SerfsTer? | |
| ENST00000643177.1:n.558_561del | ||
| ENST00000643426.1:n.2192_2195del | ||
| ENST00000643946.1:c.4475_4478del | ENSP00000495927.1:p.Asn1492SerfsTer? | |
| ENST00000644043.1:c.4415_4418del | ENSP00000496262.1:p.Asn1472SerfsTer? | |
| ENST00000644329.1:c.4343_4346del | ENSP00000496611.1:p.Asn1448SerfsTer? | |
| ENST00000644335.1:c.4346_4349del | ENSP00000496317.1:p.Asn1449SerfsTer? | |
| ENST00000644399.1:c.4465_4468del | ||
| ENST00000645024.1:n.2628_2631del | ||
| ENST00000646388.1:c.4544_4547del | ENSP00000495921.1:p.Asn1515SerfsTer? | |
| ENST00000646634.1:n.3359_3362del | ||
| ENST00000646674.1:n.1796_1799del | ||
| ENST00000647042.1:n.1767_1770del | ||
| ENST00000647180.1:n.1657_1660del | ||
| ENST00000219476.7:c.4544_4547del | ENSP00000219476.3:p.Asn1515SerfsTer? | |
| ENST00000350773.8:c.4475_4478del | ENSP00000344383.4:p.Asn1492SerfsTer? | |
| ENST00000382538.10:c.4199_4202del | ENSP00000371978.6:p.Asn1400SerfsTer? | |
| ENST00000401874.6:c.4343_4346del | ENSP00000384468.2:p.Asn1448SerfsTer? | |
| ENST00000439117.6:c.*3711_*3714del | ENSP00000406980.2:n.*3711_*3714del | |
| ENST00000439673.6:c.4235_4238del | ENSP00000399232.2:p.Asn1412SerfsTer? | |
| ENST00000497886.5:n.2302_2305del | ||
| ENST00000568454.5:c.4376_4379del | ENSP00000454487.1:p.Asn1459SerfsTer? | |
| ENST00000569110.1:c.726_729del | ||
| ENST00000569930.1:n.1659_1662del | ||
| NM_000548.3:c.4544_4547del , LRG_487t1:c.4544_4547del | NP_000539.2:p.Asn1515SerfsTer? | |
| NM_001077183.1:c.4343_4346del | NP_001070651.1:p.Asn1448SerfsTer? | |
| NM_001114382.1:c.4475_4478del | NP_001107854.1:p.Asn1492SerfsTer? | |
| XM_005255529.3:c.4415_4418del | XP_005255586.2:p.Asn1472SerfsTer? | |
| XM_005255531.3:c.4346_4349del | XP_005255588.2:p.Asn1449SerfsTer? | |
| XM_011522636.1:c.4598_4601del | XP_011520938.1:p.Asn1533SerfsTer? | |
| XM_011522637.1:c.4595_4598del | XP_011520939.1:p.Asn1532SerfsTer? | |
| XM_011522638.1:c.4487_4490del | XP_011520940.1:p.Asn1496SerfsTer? | |
| XM_011522639.1:c.4469_4472del | XP_011520941.1:p.Asn1490SerfsTer? | |
| XM_011522640.1:c.4466_4469del | XP_011520942.1:p.Asn1489SerfsTer? | |
| XM_011522641.1:c.4235_4238del | XP_011520943.1:p.Asn1412SerfsTer? | |
| NM_000548.4:c.4544_4547del | NP_000539.2:p.Asn1515SerfsTer? | |
| NM_001077183.2:c.4343_4346del | NP_001070651.1:p.Asn1448SerfsTer? | |
| NM_001114382.2:c.4475_4478del | NP_001107854.1:p.Asn1492SerfsTer? | |
| NM_001318827.1:c.4235_4238del | NP_001305756.1:p.Asn1412SerfsTer? | |
| NM_001318829.1:c.4199_4202del | NP_001305758.1:p.Asn1400SerfsTer? | |
| NM_001318831.1:c.3812_3815del | NP_001305760.1:p.Asn1271SerfsTer? | |
| NM_001318832.1:c.4376_4379del | NP_001305761.1:p.Asn1459SerfsTer? | |
| NM_001363528.1:c.4346_4349del | NP_001350457.1:p.Asn1449SerfsTer? | |
| NM_021055.2:c.4415_4418del | NP_066399.2:p.Asn1472SerfsTer? | |
| XM_005255531.4:c.4346_4349del | XP_005255588.2:p.Asn1449SerfsTer? | |
| XM_011522636.2:c.4598_4601del | XP_011520938.1:p.Asn1533SerfsTer? | |
| XM_011522637.2:c.4595_4598del | XP_011520939.1:p.Asn1532SerfsTer? | |
| XM_011522638.2:c.4760_4763del | XP_011520940.2:p.Asn1587SerfsTer? | |
| XM_011522639.2:c.4469_4472del | XP_011520941.1:p.Asn1490SerfsTer? | |
| XM_011522640.2:c.4466_4469del | XP_011520942.1:p.Asn1489SerfsTer? | |
| XM_017023615.1:c.4541_4544del | XP_016879104.1:p.Asn1514SerfsTer? | |
| XM_017023616.1:c.4412_4415del | XP_016879105.1:p.Asn1471SerfsTer? | |
| XM_017023617.1:c.4508_4511del | XP_016879106.1:p.Asn1503SerfsTer? | |
| XM_017023618.1:c.3254_3257del | XP_016879107.1:p.Asn1085SerfsTer? | |
| XM_024450413.1:c.4343_4346del | XP_024306181.1:p.Asn1448SerfsTer? | |
| NM_000548.5:c.4544_4547del MANE Select | NP_000539.2:p.Asn1515SerfsTer? | |
| NM_001370404.1:c.4412_4415del | NP_001357333.1:p.Asn1471SerfsTer? | |
| NM_001370405.1:c.4415_4418del | NP_001357334.1:p.Asn1472SerfsTer? | |
| NM_001077183.3:c.4343_4346del | NP_001070651.1:p.Asn1448SerfsTer? | |
| NM_001114382.3:c.4475_4478del | NP_001107854.1:p.Asn1492SerfsTer? | |
| NM_001318827.2:c.4235_4238del | NP_001305756.1:p.Asn1412SerfsTer? | |
| NM_001318829.2:c.4199_4202del | NP_001305758.1:p.Asn1400SerfsTer? | |
| NM_001318831.2:c.3812_3815del | NP_001305760.1:p.Asn1271SerfsTer? | |
| NM_001318832.2:c.4376_4379del | NP_001305761.1:p.Asn1459SerfsTer? | |
| NM_001363528.2:c.4346_4349del | NP_001350457.1:p.Asn1449SerfsTer? | |
| NM_021055.3:c.4415_4418del | NP_066399.2:p.Asn1472SerfsTer? |