Linked Data
ClinVar Variation Id:
371635
ClinVar RCV Id:
RCV000410749
dbSNP Id:
rs761204548
ExAC:
17:7125540 CAGTT / C
gnomAD v2:
17-7125540-CAGTT-C
gnomAD v4:
17-7222221-CAGTT-C
MyVariant Identifiers:
chr17:g.7125542_7125545del (hg19)
chr17:g.7125541_7125544del (hg19)
chr17:g.7222223_7222226del (hg38)
chr17:g.7222222_7222225del (hg38)
ERepo:
CA8337855/MONDO:0008723/021
PubMed:
PMID:9973285
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222223_7222226del , CM000679.2:g.7222223_7222226del | GRCh38 |
| NC_000017.10:g.7125542_7125545del , CM000679.1:g.7125542_7125545del | GRCh37 |
| NC_000017.9:g.7066266_7066269del | NCBI36 |
| NG_007975.1:g.7390_7393del | |
| NG_008391.2:g.2826_2829del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.799_802del MANE Select | ENSP00000349297.5:p.Val267GlnfsTer8 | |
| ENST00000322910.9:c.*754_*757del | ENSP00000325395.5:n.*754_*757del | |
| ENST00000350303.9:c.733_736del | ENSP00000344152.5:p.Val245GlnfsTer8 | |
| ENST00000356839.9:c.799_802del | ENSP00000349297.5:p.Val267GlnfsTer8 | |
| ENST00000543245.6:c.868_871del | ENSP00000438689.2:p.Val290GlnfsTer8 | |
| ENST00000577191.5:n.971_974del | ||
| ENST00000581378.5:c.517_520del | ||
| ENST00000582379.1:n.183_186del | ||
| NM_000018.3:c.799_802del | NP_000009.1:p.Val267GlnfsTer8 | |
| NM_001033859.2:c.733_736del | NP_001029031.1:p.Val245GlnfsTer8 | |
| NM_001270447.1:c.868_871del | NP_001257376.1:p.Val290GlnfsTer8 | |
| NM_001270448.1:c.571_574del | NP_001257377.1:p.Val191GlnfsTer8 | |
| XM_006721516.2:c.799_802del | XP_006721579.2:p.Val267GlnfsTer8 | |
| XM_011523829.1:c.799_802del | XP_011522131.1:p.Val267GlnfsTer8 | |
| XM_011523830.1:c.799_802del | XP_011522132.1:p.Val267GlnfsTer8 | |
| XR_934021.1:n.906_909del | ||
| XR_934022.1:n.906_909del | ||
| XR_934023.1:n.906_909del | ||
| XM_006721516.3:c.799_802del | XP_006721579.2:p.Val267GlnfsTer8 | |
| XM_011523829.2:c.799_802del | XP_011522131.1:p.Val267GlnfsTer8 | |
| XM_011523830.2:c.799_802del | XP_011522132.1:p.Val267GlnfsTer8 | |
| XM_024450741.1:c.799_802del | XP_024306509.1:p.Val267GlnfsTer8 | |
| XR_934021.2:n.858_861del | ||
| XR_934022.2:n.858_861del | ||
| XR_934023.2:n.858_861del | ||
| NM_000018.4:c.799_802del MANE Select | NP_000009.1:p.Val267GlnfsTer8 | |
| NM_001033859.3:c.733_736del | NP_001029031.1:p.Val245GlnfsTer8 | |
| NM_001270447.2:c.868_871del | NP_001257376.1:p.Val290GlnfsTer8 | |
| NM_001270448.2:c.571_574del | NP_001257377.1:p.Val191GlnfsTer8 |