Linked Data
ClinVar Variation Id:
541718
ClinVar RCV Id:
RCV000652036
dbSNP Id:
rs1443151475
gnomAD v2:
17-7123479-GC-G
gnomAD v3:
17-7220160-GC-G
gnomAD v4:
17-7220160-GC-G
MyVariant Identifiers:
chr17:g.7123482del (hg19)
chr17:g.7123480del (hg19)
chr17:g.7220163del (hg38)
chr17:g.7220161del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7220163del , CM000679.2:g.7220163del | GRCh38 |
| NC_000017.10:g.7123482del , CM000679.1:g.7123482del | GRCh37 |
| NC_000017.9:g.7064206del | NCBI36 |
| NG_007975.1:g.5330del | |
| NG_008391.2:g.4890del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356839.10:c.104del MANE Select | ENSP00000349297.5:p.Pro35LeufsTer26 | |
| ENST00000322910.9:c.*59del | ENSP00000325395.5:n.*59del | |
| ENST00000350303.9:c.104del | ENSP00000344152.5:p.Pro35LeufsTer? | |
| ENST00000356839.9:c.104del | ENSP00000349297.5:p.Pro35LeufsTer26 | |
| ENST00000543245.6:c.173del | ENSP00000438689.2:p.Pro58LeufsTer26 | |
| ENST00000577191.5:n.181del | ||
| ENST00000577857.5:n.194del | ||
| ENST00000578269.5:n.211del | ||
| ENST00000578421.1:n.238del | ||
| ENST00000579286.5:n.211del | ||
| ENST00000579886.2:c.104del | ENSP00000463246.1:p.Pro35LeufsTer26 | |
| ENST00000580263.5:n.194del | ||
| ENST00000581562.5:n.151del | ||
| ENST00000582056.5:n.194del | ||
| ENST00000582356.5:n.229del | ||
| ENST00000583312.5:c.104del | ENSP00000467920.1:p.Pro35LeufsTer26 | |
| ENST00000584103.5:c.104del | ENSP00000465353.1:p.Pro35LeufsTer26 | |
| NM_000018.3:c.104del | NP_000009.1:p.Pro35LeufsTer26 | |
| NM_001033859.2:c.104del | NP_001029031.1:p.Pro35LeufsTer? | |
| NM_001270447.1:c.173del | NP_001257376.1:p.Pro58LeufsTer26 | |
| NM_001270448.1:c.-125del | NP_001257377.1:n.-125del | |
| XM_006721516.2:c.104del | XP_006721579.2:p.Pro35LeufsTer26 | |
| XM_011523829.1:c.104del | XP_011522131.1:p.Pro35LeufsTer26 | |
| XM_011523830.1:c.104del | XP_011522132.1:p.Pro35LeufsTer26 | |
| XR_934021.1:n.211del | ||
| XR_934022.1:n.211del | ||
| XR_934023.1:n.211del | ||
| XM_006721516.3:c.104del | XP_006721579.2:p.Pro35LeufsTer26 | |
| XM_011523829.2:c.104del | XP_011522131.1:p.Pro35LeufsTer26 | |
| XM_011523830.2:c.104del | XP_011522132.1:p.Pro35LeufsTer26 | |
| XM_024450741.1:c.104del | XP_024306509.1:p.Pro35LeufsTer26 | |
| XR_934021.2:n.163del | ||
| XR_934022.2:n.163del | ||
| XR_934023.2:n.163del | ||
| NM_000018.4:c.104del MANE Select | NP_000009.1:p.Pro35LeufsTer26 | |
| NM_001033859.3:c.104del | NP_001029031.1:p.Pro35LeufsTer? | |
| NM_001270447.2:c.173del | NP_001257376.1:p.Pro58LeufsTer26 | |
| NM_001270448.2:c.-125del | NP_001257377.1:n.-125del |