Linked Data
ClinVar Variation Id:
371068
dbSNP Id:
rs1057516979
gnomAD v4:
17-7220794-TAA-T
PubMed:
PMID:26385305
ERepo:
CA16041859/MONDO:0008723/021
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7220796_7220797del , CM000679.2:g.7220796_7220797del | GRCh38 |
| NC_000017.10:g.7124115_7124116del , CM000679.1:g.7124115_7124116del | GRCh37 |
| NC_000017.9:g.7064839_7064840del | NCBI36 |
| NG_007975.1:g.5963_5964del | |
| NG_008391.2:g.4255_4256del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356839.10:c.308_309del MANE Select | ENSP00000349297.5:p.Lys103ArgfsTer20 | |
| ENST00000322910.9:c.*263_*264del | ENSP00000325395.5:n.*263_*264del | |
| ENST00000350303.9:c.242_243del | ENSP00000344152.5:p.Lys81ArgfsTer20 | |
| ENST00000356839.9:c.308_309del | ENSP00000349297.5:p.Lys103ArgfsTer20 | |
| ENST00000543245.6:c.377_378del | ENSP00000438689.2:p.Lys126ArgfsTer20 | |
| ENST00000577191.5:n.385_386del | ||
| ENST00000577433.5:n.516_517del | ||
| ENST00000577857.5:n.259_260del | ||
| ENST00000579286.5:n.489_490del | ||
| ENST00000579886.2:c.202-149_202-148del | ENSP00000463246.1:n.202-149_202-148del | |
| ENST00000580365.1:n.39_40del | ||
| ENST00000581378.5:c.7_8del | ||
| ENST00000581562.5:n.355_356del | ||
| ENST00000582056.5:n.398_399del | ||
| ENST00000582166.1:n.196_197del | ||
| ENST00000582356.5:n.507_508del | ||
| ENST00000583312.5:c.308_309del | ENSP00000467920.1:p.Lys103ArgfsTer20 | |
| ENST00000584103.5:c.308_309del | ENSP00000465353.1:p.Lys103ArgfsTer? | |
| NM_000018.3:c.308_309del | NP_000009.1:p.Lys103ArgfsTer20 | |
| NM_001033859.2:c.242_243del | NP_001029031.1:p.Lys81ArgfsTer20 | |
| NM_001270447.1:c.377_378del | NP_001257376.1:p.Lys126ArgfsTer20 | |
| NM_001270448.1:c.80_81del | NP_001257377.1:p.Lys27ArgfsTer20 | |
| XM_006721516.2:c.308_309del | XP_006721579.2:p.Lys103ArgfsTer20 | |
| XM_011523829.1:c.308_309del | XP_011522131.1:p.Lys103ArgfsTer20 | |
| XM_011523830.1:c.308_309del | XP_011522132.1:p.Lys103ArgfsTer20 | |
| XR_934021.1:n.415_416del | ||
| XR_934022.1:n.415_416del | ||
| XR_934023.1:n.415_416del | ||
| XM_006721516.3:c.308_309del | XP_006721579.2:p.Lys103ArgfsTer20 | |
| XM_011523829.2:c.308_309del | XP_011522131.1:p.Lys103ArgfsTer20 | |
| XM_011523830.2:c.308_309del | XP_011522132.1:p.Lys103ArgfsTer20 | |
| XM_024450741.1:c.308_309del | XP_024306509.1:p.Lys103ArgfsTer20 | |
| XR_934021.2:n.367_368del | ||
| XR_934022.2:n.367_368del | ||
| XR_934023.2:n.367_368del | ||
| NM_000018.4:c.308_309del MANE Select | NP_000009.1:p.Lys103ArgfsTer20 | |
| NM_001033859.3:c.242_243del | NP_001029031.1:p.Lys81ArgfsTer20 | |
| NM_001270447.2:c.377_378del | NP_001257376.1:p.Lys126ArgfsTer20 | |
| NM_001270448.2:c.80_81del | NP_001257377.1:p.Lys27ArgfsTer20 |