Linked Data
ClinVar Variation Id:
1624
dbSNP Id:
rs387906249
ExAC:
17:7124241 AG / A
gnomAD v2:
17-7124241-AG-A
gnomAD v3:
17-7220922-AG-A
gnomAD v4:
17-7220922-AG-A
MyVariant Identifiers:
chr17:g.7124243del (hg19)
chr17:g.7124242del (hg19)
chr17:g.7124243delG (hg19)
chr17:g.7220924del (hg38)
chr17:g.7220923del (hg38)
ERepo:
CA220206/MONDO:0008723/021
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7220924del , CM000679.2:g.7220924del | GRCh38 |
| NC_000017.10:g.7124243del , CM000679.1:g.7124243del | GRCh37 |
| NC_000017.9:g.7064967del | NCBI36 |
| NG_007975.1:g.6091del | |
| NG_008391.2:g.4128del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356839.10:c.343del | ||
| ENST00000322910.9:c.*298del | ||
| ENST00000350303.9:c.277del | ||
| ENST00000356839.9:c.343del | ||
| ENST00000543245.6:c.412del | ||
| ENST00000577191.5:n.420del | ||
| ENST00000577433.5:n.551del | ||
| ENST00000577857.5:n.293+94del | ||
| ENST00000579286.5:n.524del | ||
| ENST00000579886.2:c.202-21del | ENSP00000463246.1:n.202-21del | |
| ENST00000580365.1:n.74del | ||
| ENST00000581378.5:c.42del | ||
| ENST00000581562.5:n.390del | ||
| ENST00000582056.5:n.526del | ||
| ENST00000582166.1:n.324del | ||
| ENST00000583312.5:c.343del | ||
| ENST00000584103.5:c.376del | ENSP00000465353.1:p.Glu126LysfsTer2 | |
| NM_000018.3:c.343del | ||
| NM_001033859.2:c.277del | ||
| NM_001270447.1:c.412del | ||
| NM_001270448.1:c.115del | ||
| XM_006721516.2:c.343del | ||
| XM_011523829.1:c.343del | ||
| XM_011523830.1:c.343del | ||
| XR_934021.1:n.450del | ||
| XR_934022.1:n.450del | ||
| XR_934023.1:n.450del | ||
| XM_006721516.3:c.343del | ||
| XM_011523829.2:c.343del | ||
| XM_011523830.2:c.343del | ||
| XM_024450741.1:c.343del | ||
| XR_934021.2:n.402del | ||
| XR_934022.2:n.402del | ||
| XR_934023.2:n.402del | ||
| NM_000018.4:c.343del | ||
| NM_001033859.3:c.277del | ||
| NM_001270447.2:c.412del | ||
| NM_001270448.2:c.115del |