Linked Data
ClinVar Variation Id:
932845
ClinVar RCV Id:
RCV001200801
dbSNP Id:
rs2071266269
gnomAD v4:
17-7222220-CCA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222221_7222222del , CM000679.2:g.7222221_7222222del | GRCh38 |
| NC_000017.10:g.7125540_7125541del , CM000679.1:g.7125540_7125541del | GRCh37 |
| NC_000017.9:g.7066264_7066265del | NCBI36 |
| NG_007975.1:g.7388_7389del | |
| NG_008391.2:g.2829_2830del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.797_798del MANE Select | ENSP00000349297.5:p.Pro266ArgfsTer? | |
| ENST00000322910.9:c.*752_*753del | ENSP00000325395.5:n.*752_*753del | |
| ENST00000350303.9:c.731_732del | ENSP00000344152.5:p.Pro244ArgfsTer? | |
| ENST00000356839.9:c.797_798del | ENSP00000349297.5:p.Pro266ArgfsTer? | |
| ENST00000543245.6:c.866_867del | ENSP00000438689.2:p.Pro289ArgfsTer? | |
| ENST00000577191.5:n.969_970del | ||
| ENST00000581378.5:c.515_516del | ||
| ENST00000582379.1:n.181_182del | ||
| NM_000018.3:c.797_798del | NP_000009.1:p.Pro266ArgfsTer? | |
| NM_001033859.2:c.731_732del | NP_001029031.1:p.Pro244ArgfsTer? | |
| NM_001270447.1:c.866_867del | NP_001257376.1:p.Pro289ArgfsTer? | |
| NM_001270448.1:c.569_570del | NP_001257377.1:p.Pro190ArgfsTer? | |
| XM_006721516.2:c.797_798del | XP_006721579.2:p.Pro266ArgfsTer? | |
| XM_011523829.1:c.797_798del | XP_011522131.1:p.Pro266ArgfsTer? | |
| XM_011523830.1:c.797_798del | XP_011522132.1:p.Pro266ArgfsTer? | |
| XR_934021.1:n.904_905del | ||
| XR_934022.1:n.904_905del | ||
| XR_934023.1:n.904_905del | ||
| XM_006721516.3:c.797_798del | XP_006721579.2:p.Pro266ArgfsTer? | |
| XM_011523829.2:c.797_798del | XP_011522131.1:p.Pro266ArgfsTer? | |
| XM_011523830.2:c.797_798del | XP_011522132.1:p.Pro266ArgfsTer? | |
| XM_024450741.1:c.797_798del | XP_024306509.1:p.Pro266ArgfsTer? | |
| XR_934021.2:n.856_857del | ||
| XR_934022.2:n.856_857del | ||
| XR_934023.2:n.856_857del | ||
| NM_000018.4:c.797_798del MANE Select | NP_000009.1:p.Pro266ArgfsTer? | |
| NM_001033859.3:c.731_732del | NP_001029031.1:p.Pro244ArgfsTer? | |
| NM_001270447.2:c.866_867del | NP_001257376.1:p.Pro289ArgfsTer? | |
| NM_001270448.2:c.569_570del | NP_001257377.1:p.Pro190ArgfsTer? |