Linked Data
ClinVar Variation Id:
39556
dbSNP Id:
rs794726688
gnomAD v2:
1-150526291-TCCGTGCATCCC-T
gnomAD v3:
1-150553815-TCCGTGCATCCC-T
gnomAD v4:
1-150553815-TCCGTGCATCCC-T
MyVariant Identifiers:
chr1:g.150526293_150526303del (hg19)
chr1:g.150526292_150526302del (hg19)
chr1:g.150553817_150553827del (hg38)
chr1:g.150553816_150553826del (hg38)
PubMed:
PMID:20564469
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150553817_150553827del , CM000663.2:g.150553817_150553827del | GRCh38 |
| NC_000001.10:g.150526293_150526303del , CM000663.1:g.150526293_150526303del | GRCh37 |
| NC_000001.9:g.148792917_148792927del | NCBI36 |
| NG_012172.1:g.9396_9406del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000271643.9:c.826_836del (ADAMTSL4) MANE Select | ENSP00000271643.4:p.Arg276SerfsTer21 | |
| ENST00000674043.1:c.826_836del (ADAMTSL4) | ENSP00000501295.1:p.Arg276SerfsTer21 | |
| ENST00000674058.1:c.826_836del (ADAMTSL4) | ENSP00000501255.1:p.Arg276SerfsTer21 | |
| ENST00000271643.8:c.826_836del (ADAMTSL4) | ENSP00000271643.4:p.Arg276SerfsTer21 | |
| ENST00000369038.6:c.826_836del (ADAMTSL4) | ENSP00000358034.2:p.Arg276SerfsTer21 | |
| ENST00000369039.9:c.826_836del (ADAMTSL4) | ENSP00000358035.5:p.Arg276SerfsTer21 | |
| ENST00000369041.9:c.826_836del (ADAMTSL4) | ENSP00000358037.5:p.Arg276SerfsTer21 | |
| NM_001288607.1:c.826_836del (ADAMTSL4) | NP_001275536.1:p.Arg276SerfsTer21 | |
| NM_001288608.1:c.826_836del (ADAMTSL4) | NP_001275537.1:p.Arg276SerfsTer21 | |
| NM_019032.5:c.826_836del (ADAMTSL4) | NP_061905.2:p.Arg276SerfsTer21 | |
| NM_025008.4:c.826_836del (ADAMTSL4) | NP_079284.2:p.Arg276SerfsTer21 | |
| XM_011509644.1:c.925_935del (ADAMTSL4) | XP_011507946.1:p.Arg309SerfsTer21 | |
| XM_011509645.1:c.925_935del (ADAMTSL4) | XP_011507947.1:p.Arg309SerfsTer21 | |
| XM_011509646.1:c.826_836del (ADAMTSL4) | XP_011507948.1:p.Arg276SerfsTer21 | |
| XM_011509647.1:c.826_836del (ADAMTSL4) | XP_011507949.1:p.Arg276SerfsTer21 | |
| XM_011509648.1:c.826_836del (ADAMTSL4) | XP_011507950.1:p.Arg276SerfsTer21 | |
| XM_011509649.1:c.925_935del (ADAMTSL4) | XP_011507951.1:p.Arg309SerfsTer21 | |
| XM_011509650.1:c.925_935del (ADAMTSL4) | XP_011507952.1:p.Arg309SerfsTer21 | |
| XR_921844.1:n.1110_1120del (ADAMTSL4) | ||
| XR_922132.1:n.370+709_370+719del (ADAMTSL4-AS2) | ||
| XR_922133.1:n.417+709_417+719del (ADAMTSL4-AS2) | ||
| XM_011509644.3:c.925_935del (ADAMTSL4) | XP_011507946.1:p.Arg309SerfsTer21 | |
| XM_011509645.3:c.925_935del (ADAMTSL4) | XP_011507947.1:p.Arg309SerfsTer21 | |
| XM_011509648.3:c.826_836del (ADAMTSL4) | XP_011507950.1:p.Arg276SerfsTer21 | |
| XM_011509649.3:c.925_935del (ADAMTSL4) | XP_011507951.1:p.Arg309SerfsTer21 | |
| XM_011509650.3:c.925_935del (ADAMTSL4) | XP_011507952.1:p.Arg309SerfsTer21 | |
| XM_017001506.2:c.826_836del (ADAMTSL4) | XP_016856995.1:p.Arg276SerfsTer21 | |
| XR_001737242.2:n.1083_1093del (ADAMTSL4) | ||
| XR_001738226.1:n.466+709_466+719del (ADAMTSL4-AS2) | ||
| XR_001738227.1:n.466+709_466+719del (ADAMTSL4-AS2) | ||
| XR_001738228.1:n.371+709_371+719del (ADAMTSL4-AS2) | ||
| XR_001738229.1:n.357+2128_357+2138del (ADAMTSL4-AS2) | ||
| XR_921844.3:n.1083_1093del (ADAMTSL4) | ||
| NM_001288607.2:c.826_836del (ADAMTSL4) | NP_001275536.1:p.Arg276SerfsTer21 | |
| NM_025008.5:c.826_836del (ADAMTSL4) | NP_079284.2:p.Arg276SerfsTer21 | |
| NM_001288608.2:c.826_836del (ADAMTSL4) | NP_001275537.1:p.Arg276SerfsTer21 | |
| NM_001378596.1:c.826_836del (ADAMTSL4) | NP_001365525.1:p.Arg276SerfsTer21 | |
| NM_019032.6:c.826_836del (ADAMTSL4) MANE Select | NP_061905.2:p.Arg276SerfsTer21 |