Linked Data
ClinVar Variation Id:
541714
ClinVar RCV Id:
RCV000652031
dbSNP Id:
rs1329022268
gnomAD v3:
17-7220154-GGCCCGGCCCT-G
gnomAD v4:
17-7220154-GGCCCGGCCCT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7220162_7220171del , CM000679.2:g.7220162_7220171del | GRCh38 |
| NC_000017.10:g.7123481_7123490del , CM000679.1:g.7123481_7123490del | GRCh37 |
| NC_000017.9:g.7064205_7064214del | NCBI36 |
| NG_007975.1:g.5329_5338del | |
| NG_008391.2:g.4887_4896del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.103_112del MANE Select | ENSP00000349297.5:p.Pro35GlyfsTer23 | |
| ENST00000322910.9:c.*58_*67del | ENSP00000325395.5:n.*58_*67del | |
| ENST00000350303.9:c.103_112del | ENSP00000344152.5:p.Pro35GlyfsTer? | |
| ENST00000356839.9:c.103_112del | ENSP00000349297.5:p.Pro35GlyfsTer23 | |
| ENST00000543245.6:c.172_181del | ENSP00000438689.2:p.Pro58GlyfsTer23 | |
| ENST00000577191.5:n.180_189del | ||
| ENST00000577857.5:n.193_202del | ||
| ENST00000578269.5:n.210_219del | ||
| ENST00000578421.1:n.237_246del | ||
| ENST00000579286.5:n.210_219del | ||
| ENST00000579886.2:c.103_112del | ENSP00000463246.1:p.Pro35GlyfsTer23 | |
| ENST00000580263.5:n.193_202del | ||
| ENST00000581562.5:n.150_159del | ||
| ENST00000582056.5:n.193_202del | ||
| ENST00000582356.5:n.228_237del | ||
| ENST00000583312.5:c.103_112del | ENSP00000467920.1:p.Pro35GlyfsTer23 | |
| ENST00000584103.5:c.103_112del | ENSP00000465353.1:p.Pro35GlyfsTer23 | |
| NM_000018.3:c.103_112del | NP_000009.1:p.Pro35GlyfsTer23 | |
| NM_001033859.2:c.103_112del | NP_001029031.1:p.Pro35GlyfsTer? | |
| NM_001270447.1:c.172_181del | NP_001257376.1:p.Pro58GlyfsTer23 | |
| NM_001270448.1:c.-126_-117del | NP_001257377.1:n.-126_-117del | |
| XM_006721516.2:c.103_112del | XP_006721579.2:p.Pro35GlyfsTer23 | |
| XM_011523829.1:c.103_112del | XP_011522131.1:p.Pro35GlyfsTer23 | |
| XM_011523830.1:c.103_112del | XP_011522132.1:p.Pro35GlyfsTer23 | |
| XR_934021.1:n.210_219del | ||
| XR_934022.1:n.210_219del | ||
| XR_934023.1:n.210_219del | ||
| XM_006721516.3:c.103_112del | XP_006721579.2:p.Pro35GlyfsTer23 | |
| XM_011523829.2:c.103_112del | XP_011522131.1:p.Pro35GlyfsTer23 | |
| XM_011523830.2:c.103_112del | XP_011522132.1:p.Pro35GlyfsTer23 | |
| XM_024450741.1:c.103_112del | XP_024306509.1:p.Pro35GlyfsTer23 | |
| XR_934021.2:n.162_171del | ||
| XR_934022.2:n.162_171del | ||
| XR_934023.2:n.162_171del | ||
| NM_000018.4:c.103_112del MANE Select | NP_000009.1:p.Pro35GlyfsTer23 | |
| NM_001033859.3:c.103_112del | NP_001029031.1:p.Pro35GlyfsTer? | |
| NM_001270447.2:c.172_181del | NP_001257376.1:p.Pro58GlyfsTer23 | |
| NM_001270448.2:c.-126_-117del | NP_001257377.1:n.-126_-117del |