Linked Data
ClinVar Variation Id:
2577654
ClinVar RCV Id:
RCV003324991
gnomAD v4:
16-2084991-GACGAGTCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2084993_2085000del , CM000678.2:g.2084993_2085000del | GRCh38 |
| NC_000016.9:g.2134994_2135001del , CM000678.1:g.2134994_2135001del | GRCh37 |
| NC_000016.8:g.2074995_2075002del | NCBI36 |
| NG_005895.1:g.40688_40695del , LRG_487:g.40688_40695del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000568566.6:c.*2885_*2892del | ENSP00000455997.2:n.*2885_*2892del | |
| ENST00000642206.2:c.4383_4390del | ENSP00000495146.2:p.Asp1461GlufsTer9 | |
| ENST00000642365.2:c.4533_4540del | ENSP00000495459.2:p.Asp1511GlufsTer9 | |
| ENST00000644417.2:c.*4916_*4923del | ENSP00000493912.2:n.*4916_*4923del | |
| ENST00000646464.2:c.*7285_*7292del | ENSP00000496610.2:n.*7285_*7292del | |
| ENST00000219476.9:c.4536_4543del MANE Select | ENSP00000219476.3:p.Asp1512GlufsTer9 | |
| ENST00000350773.9:c.4467_4474del | ENSP00000344383.4:p.Asp1489GlufsTer9 | |
| ENST00000401874.7:c.4335_4342del | ENSP00000384468.2:p.Asp1445GlufsTer9 | |
| ENST00000568454.6:c.4368_4375del | ENSP00000454487.1:p.Asp1456GlufsTer9 | |
| ENST00000569110.2:c.759_766del | ||
| ENST00000569930.2:n.2418_2425del | ||
| ENST00000642365.1:c.3190_3197del | ||
| ENST00000642561.1:c.4407_4414del | ENSP00000495099.1:p.Asp1469GlufsTer9 | |
| ENST00000642728.1:n.718_725del | ||
| ENST00000642797.1:c.4338_4345del | ENSP00000493846.1:p.Asp1446GlufsTer9 | |
| ENST00000642936.1:c.4404_4411del | ENSP00000494514.1:p.Asp1468GlufsTer9 | |
| ENST00000643088.1:c.4335_4342del | ENSP00000494747.1:p.Asp1445GlufsTer9 | |
| ENST00000643177.1:n.550_557del | ||
| ENST00000643426.1:n.2184_2191del | ||
| ENST00000643946.1:c.4467_4474del | ENSP00000495927.1:p.Asp1489GlufsTer9 | |
| ENST00000644043.1:c.4407_4414del | ENSP00000496262.1:p.Asp1469GlufsTer9 | |
| ENST00000644329.1:c.4335_4342del | ENSP00000496611.1:p.Asp1445GlufsTer9 | |
| ENST00000644335.1:c.4338_4345del | ENSP00000496317.1:p.Asp1446GlufsTer9 | |
| ENST00000644399.1:c.4457_4464del | ||
| ENST00000645024.1:n.2620_2627del | ||
| ENST00000646388.1:c.4536_4543del | ENSP00000495921.1:p.Asp1512GlufsTer9 | |
| ENST00000646634.1:n.3351_3358del | ||
| ENST00000646674.1:n.1788_1795del | ||
| ENST00000647042.1:n.1759_1766del | ||
| ENST00000647180.1:n.1649_1656del | ||
| ENST00000219476.7:c.4536_4543del | ENSP00000219476.3:p.Asp1512GlufsTer9 | |
| ENST00000350773.8:c.4467_4474del | ENSP00000344383.4:p.Asp1489GlufsTer9 | |
| ENST00000382538.10:c.4191_4198del | ENSP00000371978.6:p.Asp1397GlufsTer9 | |
| ENST00000401874.6:c.4335_4342del | ENSP00000384468.2:p.Asp1445GlufsTer9 | |
| ENST00000439117.6:c.*3703_*3710del | ENSP00000406980.2:n.*3703_*3710del | |
| ENST00000439673.6:c.4227_4234del | ENSP00000399232.2:p.Asp1409GlufsTer9 | |
| ENST00000497886.5:n.2294_2301del | ||
| ENST00000568454.5:c.4368_4375del | ENSP00000454487.1:p.Asp1456GlufsTer9 | |
| ENST00000569110.1:c.718_725del | ||
| ENST00000569930.1:n.1651_1658del | ||
| NM_000548.3:c.4536_4543del , LRG_487t1:c.4536_4543del | NP_000539.2:p.Asp1512GlufsTer9 | |
| NM_001077183.1:c.4335_4342del | NP_001070651.1:p.Asp1445GlufsTer9 | |
| NM_001114382.1:c.4467_4474del | NP_001107854.1:p.Asp1489GlufsTer9 | |
| XM_005255529.3:c.4407_4414del | XP_005255586.2:p.Asp1469GlufsTer9 | |
| XM_005255531.3:c.4338_4345del | XP_005255588.2:p.Asp1446GlufsTer9 | |
| XM_011522636.1:c.4590_4597del | XP_011520938.1:p.Asp1530GlufsTer9 | |
| XM_011522637.1:c.4587_4594del | XP_011520939.1:p.Asp1529GlufsTer9 | |
| XM_011522638.1:c.4479_4486del | XP_011520940.1:p.Asp1493GlufsTer9 | |
| XM_011522639.1:c.4461_4468del | XP_011520941.1:p.Asp1487GlufsTer9 | |
| XM_011522640.1:c.4458_4465del | XP_011520942.1:p.Asp1486GlufsTer9 | |
| XM_011522641.1:c.4227_4234del | XP_011520943.1:p.Asp1409GlufsTer9 | |
| NM_000548.4:c.4536_4543del | NP_000539.2:p.Asp1512GlufsTer9 | |
| NM_001077183.2:c.4335_4342del | NP_001070651.1:p.Asp1445GlufsTer9 | |
| NM_001114382.2:c.4467_4474del | NP_001107854.1:p.Asp1489GlufsTer9 | |
| NM_001318827.1:c.4227_4234del | NP_001305756.1:p.Asp1409GlufsTer9 | |
| NM_001318829.1:c.4191_4198del | NP_001305758.1:p.Asp1397GlufsTer9 | |
| NM_001318831.1:c.3804_3811del | NP_001305760.1:p.Asp1268GlufsTer9 | |
| NM_001318832.1:c.4368_4375del | NP_001305761.1:p.Asp1456GlufsTer9 | |
| NM_001363528.1:c.4338_4345del | NP_001350457.1:p.Asp1446GlufsTer9 | |
| NM_021055.2:c.4407_4414del | NP_066399.2:p.Asp1469GlufsTer9 | |
| XM_005255531.4:c.4338_4345del | XP_005255588.2:p.Asp1446GlufsTer9 | |
| XM_011522636.2:c.4590_4597del | XP_011520938.1:p.Asp1530GlufsTer9 | |
| XM_011522637.2:c.4587_4594del | XP_011520939.1:p.Asp1529GlufsTer9 | |
| XM_011522638.2:c.4752_4759del | XP_011520940.2:p.Asp1584GlufsTer9 | |
| XM_011522639.2:c.4461_4468del | XP_011520941.1:p.Asp1487GlufsTer9 | |
| XM_011522640.2:c.4458_4465del | XP_011520942.1:p.Asp1486GlufsTer9 | |
| XM_017023615.1:c.4533_4540del | XP_016879104.1:p.Asp1511GlufsTer9 | |
| XM_017023616.1:c.4404_4411del | XP_016879105.1:p.Asp1468GlufsTer9 | |
| XM_017023617.1:c.4500_4507del | XP_016879106.1:p.Asp1500GlufsTer9 | |
| XM_017023618.1:c.3246_3253del | XP_016879107.1:p.Asp1082GlufsTer9 | |
| XM_024450413.1:c.4335_4342del | XP_024306181.1:p.Asp1445GlufsTer9 | |
| NM_000548.5:c.4536_4543del MANE Select | NP_000539.2:p.Asp1512GlufsTer9 | |
| NM_001370404.1:c.4404_4411del | NP_001357333.1:p.Asp1468GlufsTer9 | |
| NM_001370405.1:c.4407_4414del | NP_001357334.1:p.Asp1469GlufsTer9 | |
| NM_001077183.3:c.4335_4342del | NP_001070651.1:p.Asp1445GlufsTer9 | |
| NM_001114382.3:c.4467_4474del | NP_001107854.1:p.Asp1489GlufsTer9 | |
| NM_001318827.2:c.4227_4234del | NP_001305756.1:p.Asp1409GlufsTer9 | |
| NM_001318829.2:c.4191_4198del | NP_001305758.1:p.Asp1397GlufsTer9 | |
| NM_001318831.2:c.3804_3811del | NP_001305760.1:p.Asp1268GlufsTer9 | |
| NM_001318832.2:c.4368_4375del | NP_001305761.1:p.Asp1456GlufsTer9 | |
| NM_001363528.2:c.4338_4345del | NP_001350457.1:p.Asp1446GlufsTer9 | |
| NM_021055.3:c.4407_4414del | NP_066399.2:p.Asp1469GlufsTer9 |