Linked Data
ClinVar Variation Id:
2680256
ClinVar RCV Id:
RCV003460248
dbSNP Id:
rs757409401
ExAC:
17:7124981 AC / A
gnomAD v2:
17-7124981-AC-A
gnomAD v4:
17-7221662-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7221664del , CM000679.2:g.7221664del | GRCh38 |
| NC_000017.10:g.7124983del , CM000679.1:g.7124983del | GRCh37 |
| NC_000017.9:g.7065707del | NCBI36 |
| NG_007975.1:g.6831del | |
| NG_008391.2:g.3388del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.604del MANE Select | ENSP00000349297.5:p.Leu202SerfsTer15 | |
| ENST00000322910.9:c.*559del | ENSP00000325395.5:n.*559del | |
| ENST00000350303.9:c.538del | ENSP00000344152.5:p.Leu180SerfsTer15 | |
| ENST00000356839.9:c.604del | ENSP00000349297.5:p.Leu202SerfsTer15 | |
| ENST00000543245.6:c.673del | ENSP00000438689.2:p.Leu225SerfsTer15 | |
| ENST00000577191.5:n.681del | ||
| ENST00000577857.5:n.420del | ||
| ENST00000579286.5:n.785del | ||
| ENST00000579886.2:c.442del | ENSP00000463246.1:p.Leu148SerfsTer? | |
| ENST00000580365.1:n.335del | ||
| ENST00000581378.5:c.322del | ||
| ENST00000581562.5:n.525-288del | ||
| ENST00000583312.5:c.604del | ENSP00000467920.1:p.Leu202SerfsTer20 | |
| ENST00000583760.1:n.386del | ||
| NM_000018.3:c.604del | NP_000009.1:p.Leu202SerfsTer15 | |
| NM_001033859.2:c.538del | NP_001029031.1:p.Leu180SerfsTer15 | |
| NM_001270447.1:c.673del | NP_001257376.1:p.Leu225SerfsTer15 | |
| NM_001270448.1:c.376del | NP_001257377.1:p.Leu126SerfsTer15 | |
| XM_006721516.2:c.604del | XP_006721579.2:p.Leu202SerfsTer15 | |
| XM_011523829.1:c.604del | XP_011522131.1:p.Leu202SerfsTer15 | |
| XM_011523830.1:c.604del | XP_011522132.1:p.Leu202SerfsTer15 | |
| XR_934021.1:n.711del | ||
| XR_934022.1:n.711del | ||
| XR_934023.1:n.711del | ||
| XM_006721516.3:c.604del | XP_006721579.2:p.Leu202SerfsTer15 | |
| XM_011523829.2:c.604del | XP_011522131.1:p.Leu202SerfsTer15 | |
| XM_011523830.2:c.604del | XP_011522132.1:p.Leu202SerfsTer15 | |
| XM_024450741.1:c.604del | XP_024306509.1:p.Leu202SerfsTer15 | |
| XR_934021.2:n.663del | ||
| XR_934022.2:n.663del | ||
| XR_934023.2:n.663del | ||
| NM_000018.4:c.604del MANE Select | NP_000009.1:p.Leu202SerfsTer15 | |
| NM_001033859.3:c.538del | NP_001029031.1:p.Leu180SerfsTer15 | |
| NM_001270447.2:c.673del | NP_001257376.1:p.Leu225SerfsTer15 | |
| NM_001270448.2:c.376del | NP_001257377.1:p.Leu126SerfsTer15 |