Linked Data
ClinVar Variation Id:
193316
ClinVar RCV Id:
RCV000173379
dbSNP Id:
rs794726921
gnomAD v2:
1-156084755-GC-G
gnomAD v3:
1-156114964-GC-G
gnomAD v4:
1-156114964-GC-G
MyVariant Identifiers:
chr1:g.156084757del (hg19)
chr1:g.156084756del (hg19)
chr1:g.156114966del (hg38)
chr1:g.156114965del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156114966del , CM000663.2:g.156114966del | GRCh38 |
| NC_000001.10:g.156084757del , CM000663.1:g.156084757del | GRCh37 |
| NC_000001.9:g.154351381del | NCBI36 |
| NG_008692.2:g.37394del , LRG_254:g.37394del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682650.1:c.48del | ENSP00000506904.1:p.Ser17AlafsTer? | |
| ENST00000683032.1:c.48del | ENSP00000506771.1:p.Ser17AlafsTer? | |
| ENST00000684195.1:c.48del | ENSP00000508220.1:p.Ser17AlafsTer? | |
| ENST00000361308.9:c.48del | ENSP00000355292.6:p.Ser17AlafsTer? | |
| ENST00000368300.9:c.48del MANE Select | ENSP00000357283.4:p.Ser17AlafsTer? | |
| ENST00000496738.6:n.423del | ||
| ENST00000674518.1:c.48del | ENSP00000502261.1:p.Ser17AlafsTer? | |
| ENST00000674600.1:c.48del | ENSP00000501666.1:p.Ser17AlafsTer? | |
| ENST00000674720.1:c.48del | ENSP00000502798.1:p.Ser17AlafsTer? | |
| ENST00000675455.1:c.48del | ENSP00000501795.1:p.Ser17AlafsTer? | |
| ENST00000675667.1:c.48del | ENSP00000501803.1:p.Ser17AlafsTer? | |
| ENST00000675874.1:c.48del | ENSP00000501851.1:p.Ser17AlafsTer? | |
| ENST00000675881.1:c.48del | ENSP00000501670.1:p.Ser17AlafsTer? | |
| ENST00000675939.1:c.48del | ENSP00000502256.1:p.Ser17AlafsTer? | |
| ENST00000675989.1:n.423del | ||
| ENST00000676208.1:c.48del | ENSP00000502468.1:p.Ser17AlafsTer? | |
| ENST00000676283.1:n.423del | ||
| ENST00000676385.2:c.48del | ENSP00000502091.1:p.Ser17AlafsTer? | |
| ENST00000676434.1:c.48del | ENSP00000501648.1:p.Ser17AlafsTer? | |
| ENST00000677389.1:c.48del MANE Plus Clinical | ENSP00000503633.1:p.Ser17AlafsTer? | |
| ENST00000347559.6:c.48del | ENSP00000292304.3:p.Ser17AlafsTer? | |
| ENST00000361308.8:c.48del | ENSP00000355292.5:p.Ser17AlafsTer? | |
| ENST00000368299.7:c.48del | ENSP00000357282.3:p.Ser17AlafsTer? | |
| ENST00000368300.8:c.48del | ENSP00000357283.4:p.Ser17AlafsTer? | |
| ENST00000368301.6:c.48del | ENSP00000357284.2:p.Ser17AlafsTer? | |
| ENST00000469565.6:n.82del | ||
| ENST00000470199.2:n.256del | ||
| ENST00000478063.2:n.204del | ||
| ENST00000502751.5:n.329-15651del | ||
| NM_001282625.1:c.48del | NP_001269554.1:p.Ser17AlafsTer? | |
| NM_001282626.1:c.48del | NP_001269555.1:p.Ser17AlafsTer? | |
| NM_005572.3:c.48del , LRG_254t1:c.48del | NP_005563.1:p.Ser17AlafsTer? | |
| NM_170707.3:c.48del | NP_733821.1:p.Ser17AlafsTer? | |
| NM_170708.3:c.48del | NP_733822.1:p.Ser17AlafsTer? | |
| XR_921781.1:n.297del | ||
| XR_921781.2:n.295del | ||
| NM_170707.4:c.48del MANE Select | NP_733821.1:p.Ser17AlafsTer? | |
| NM_001282626.2:c.48del | NP_001269555.1:p.Ser17AlafsTer? | |
| NM_001282625.2:c.48del | NP_001269554.1:p.Ser17AlafsTer? | |
| NM_005572.4:c.48del MANE Plus Clinical | NP_005563.1:p.Ser17AlafsTer? | |
| NM_170708.4:c.48del | NP_733822.1:p.Ser17AlafsTer? |