Linked Data
ClinVar Variation Id:
849158
ClinVar RCV Id:
RCV001053058
dbSNP Id:
rs2052742922
gnomAD v4:
17-43076592-ACTT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43076593_43076595del , CM000679.2:g.43076593_43076595del | GRCh38 |
| NC_000017.10:g.41228610_41228612del , CM000679.1:g.41228610_41228612del | GRCh37 |
| NC_000017.9:g.38482136_38482138del | NCBI36 |
| NG_005905.2:g.141389_141391del , LRG_292:g.141389_141391del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4374_4376del | ENSP00000417241.2:p.Lys1458_Ser1459delinsAsn | |
| ENST00000470026.6:c.4377_4379del | ENSP00000419274.2:p.Lys1459_Ser1460delinsAsn | |
| ENST00000473961.6:c.4251_4253del | ENSP00000420201.2:p.Lys1417_Ser1418delinsAsn | |
| ENST00000476777.6:c.4371_4373del | ENSP00000417554.2:p.Lys1457_Ser1458delinsAsn | |
| ENST00000477152.6:c.4299_4301del | ENSP00000419988.2:p.Lys1433_Ser1434delinsAsn | |
| ENST00000478531.6:c.1065_1067del | ENSP00000420412.2:p.Lys355_Ser356delinsAsn | |
| ENST00000489037.2:c.4299_4301del | ENSP00000420781.2:p.Lys1433_Ser1434delinsAsn | |
| ENST00000493919.6:c.927_929del | ENSP00000418819.2:p.Lys309_Ser310delinsAsn | |
| ENST00000494123.6:c.4377_4379del | ENSP00000419103.2:p.Lys1459_Ser1460delinsAsn | |
| ENST00000497488.2:c.3489_3491del | ENSP00000418986.2:p.Lys1163_Ser1164delinsAsn | |
| ENST00000618469.2:c.4377_4379del | ENSP00000478114.2:p.Lys1459_Ser1460delinsAsn | |
| ENST00000634433.2:c.4254_4256del | ENSP00000489431.2:p.Lys1418_Ser1419delinsAsn | |
| ENST00000644379.2:c.4443_4445del | ENSP00000496570.2:p.Lys1481_Ser1482delinsAsn | |
| ENST00000644555.2:c.927_929del | ENSP00000494614.2:p.Lys309_Ser310delinsAsn | |
| ENST00000652672.2:c.4236_4238del | ENSP00000498906.2:p.Lys1412_Ser1413delinsAsn | |
| ENST00000484087.6:c.939_941del | ENSP00000419481.2:p.Lys313_Ser314delinsAsn | |
| ENST00000700182.1:c.984_986del | ENSP00000514849.1:p.Lys328_Ser329delinsAsn | |
| ENST00000357654.9:c.4377_4379del MANE Select | ENSP00000350283.3:p.Lys1459_Ser1460delinsAsn | |
| ENST00000471181.7:c.4440_4442del | ENSP00000418960.2:p.Lys1480_Ser1481delinsAsn | |
| ENST00000644379.1:c.764_766del | ||
| ENST00000352993.7:c.951_953del | ENSP00000312236.5:p.Lys317_Ser318delinsAsn | |
| ENST00000357654.7:c.4377_4379del | ENSP00000350283.3:p.Lys1459_Ser1460delinsAsn | |
| ENST00000461221.5:c.*4160_*4162del | ENSP00000418548.1:n.*4160_*4162del | |
| ENST00000461574.1:c.668_670del | ||
| ENST00000468300.5:c.1065_1067del | ENSP00000417148.1:p.Lys355_Ser356delinsAsn | |
| ENST00000471181.6:c.4440_4442del | ENSP00000418960.2:p.Lys1480_Ser1481delinsAsn | |
| ENST00000478531.5:c.1065_1067del | ENSP00000420412.1:p.Lys355_Ser356delinsAsn | |
| ENST00000484087.5:c.690_692del | ENSP00000419481.1:p.Lys230_Ser231delinsAsn | |
| ENST00000487825.5:c.693_695del | ENSP00000418212.1:p.Lys231_Ser232delinsAsn | |
| ENST00000491747.6:c.1065_1067del | ENSP00000420705.2:p.Lys355_Ser356delinsAsn | |
| ENST00000493795.5:c.4236_4238del | ENSP00000418775.1:p.Lys1412_Ser1413delinsAsn | |
| ENST00000493919.5:c.927_929del | ENSP00000418819.1:p.Lys309_Ser310delinsAsn | |
| ENST00000586385.5:c.5-12644_5-12642del | ENSP00000465818.1:n.5-12644_5-12642del | |
| ENST00000591534.5:c.-43-2074_-43-2072del | ENSP00000467329.1:n.-43-2074_-43-2072del | |
| ENST00000591849.5:c.-98-26405_-98-26403del | ENSP00000465347.1:n.-98-26405_-98-26403del | |
| ENST00000621897.1:n.268_270del | ||
| NM_007294.3:c.4377_4379del , LRG_292t1:c.4377_4379del | NP_009225.1:p.Lys1459_Ser1460delinsAsn | |
| NM_007297.3:c.4236_4238del | NP_009228.2:p.Lys1412_Ser1413delinsAsn | |
| NM_007298.3:c.1065_1067del | NP_009229.2:p.Lys355_Ser356delinsAsn | |
| NM_007299.3:c.1065_1067del | NP_009230.2:p.Lys355_Ser356delinsAsn | |
| NM_007300.3:c.4440_4442del | NP_009231.2:p.Lys1480_Ser1481delinsAsn | |
| NR_027676.1:n.4513_4515del | ||
| NM_007294.4:c.4377_4379del MANE Select | NP_009225.1:p.Lys1459_Ser1460delinsAsn | |
| NM_007297.4:c.4236_4238del | NP_009228.2:p.Lys1412_Ser1413delinsAsn | |
| NM_007299.4:c.1065_1067del | NP_009230.2:p.Lys355_Ser356delinsAsn | |
| NM_007300.4:c.4440_4442del | NP_009231.2:p.Lys1480_Ser1481delinsAsn | |
| NR_027676.2:n.4554_4556del |