Linked Data
ClinVar Variation Id:
543749
dbSNP Id:
rs768132465
ExAC:
10:43572749 TTGC / T
gnomAD v2:
10-43572749-TTGC-T
gnomAD v3:
10-43077301-TTGC-T
gnomAD v4:
10-43077301-TTGC-T
MyVariant Identifiers:
chr10:g.43572762_43572764del (hg19)
chr10:g.43572750_43572752del (hg19)
chr10:g.43077314_43077316del (hg38)
chr10:g.43077303_43077305del (hg38)
chr10:g.43077302_43077304del (hg38)
PubMed:
PMID:28135719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43077314_43077316del , CM000672.2:g.43077314_43077316del | GRCh38 |
| NC_000010.10:g.43572762_43572764del , CM000672.1:g.43572762_43572764del | GRCh37 |
| NC_000010.9:g.42892768_42892770del | NCBI36 |
| NG_007489.1:g.5246_5248del , LRG_518:g.5246_5248del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.56_58del | ENSP00000480088.2:p.Leu19del | |
| ENST00000340058.6:c.56_58del | ENSP00000344798.4:p.Leu19del | |
| ENST00000355710.8:c.56_58del MANE Select | ENSP00000347942.3:p.Leu19del | |
| ENST00000671844.1:c.56_58del | ENSP00000500541.1:p.Leu19del | |
| ENST00000672389.1:c.56_58del | ENSP00000500252.1:p.Leu19del | |
| ENST00000340058.5:c.56_58del | ENSP00000344798.4:p.Leu19del | |
| ENST00000355710.7:c.56_58del | ENSP00000347942.3:p.Leu19del | |
| ENST00000498820.5:c.56_58del | ENSP00000419080.1:p.Leu19del | |
| ENST00000615310.4:c.56_58del | ENSP00000480088.1:p.Leu19del | |
| NM_020630.4:c.56_58del , LRG_518t2:c.56_58del | NP_065681.1:p.Leu19del | |
| NM_020975.4:c.56_58del , LRG_518t1:c.56_58del | NP_066124.1:p.Leu19del | |
| XM_011540027.1:c.56_58del | XP_011538329.1:p.Leu19del | |
| NM_020630.5:c.56_58del | NP_065681.1:p.Leu19del | |
| NM_020975.5:c.56_58del | NP_066124.1:p.Leu19del | |
| NM_020975.6:c.56_58del MANE Select | NP_066124.1:p.Leu19del | |
| NM_020630.6:c.56_58del | NP_065681.1:p.Leu19del |