Linked Data
ClinVar Variation Id:
38973
dbSNP Id:
rs281865500
gnomAD v2:
16-66582904-GTTCT-G
gnomAD v3:
16-66549001-GTTCT-G
gnomAD v4:
16-66549001-GTTCT-G
PubMed:
PMID:23230576
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.66549004_66549007del , CM000678.2:g.66549004_66549007del | GRCh38 |
| NC_000016.9:g.66582907_66582910del , CM000678.1:g.66582907_66582910del | GRCh37 |
| NC_000016.8:g.65140408_65140411del | NCBI36 |
| NG_016862.1:g.6408_6411del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299697.12:c.36_39del | ENSP00000299697.9:p.Lys12AsnfsTer11 | |
| ENST00000417693.8:c.129_132del | ENSP00000407469.5:p.Lys43AsnfsTer9 | |
| ENST00000451102.7:c.36_39del | ENSP00000414334.4:p.Lys12AsnfsTer9 | |
| ENST00000527284.6:c.73_76del | ||
| ENST00000527800.6:c.-163_-160del | ENSP00000433770.1:n.-163_-160del | |
| ENST00000544898.6:c.129_132del MANE Select | ENSP00000440898.2:p.Lys43AsnfsTer9 | |
| ENST00000567357.6:c.129_132del | ENSP00000457959.2:p.Lys43AsnfsTer9 | |
| ENST00000569718.6:c.36_39del | ENSP00000464313.2:p.Lys12AsnfsTer9 | |
| ENST00000620035.5:c.129_132del | ENSP00000483833.2:p.Lys43AsnfsTer11 | |
| ENST00000676536.1:c.5_8del | ||
| ENST00000676538.1:c.5_8del | ||
| ENST00000677124.1:n.5_8del | ||
| ENST00000677412.1:c.5_8del | ||
| ENST00000677420.1:c.-109_-106del | ENSP00000504648.1:n.-109_-106del | |
| ENST00000677541.1:c.5_8del | ||
| ENST00000677555.1:c.-88_-85del | ENSP00000503331.1:n.-88_-85del | |
| ENST00000677715.1:c.-163_-160del | ENSP00000502950.1:n.-163_-160del | |
| ENST00000678015.1:c.-163_-160del | ENSP00000502959.1:n.-163_-160del | |
| ENST00000678205.1:c.5_8del | ||
| ENST00000678297.1:c.-88_-85del | ENSP00000503472.1:n.-88_-85del | |
| ENST00000678314.1:c.-61+2535_-61+2538del | ENSP00000504438.1:n.-61+2535_-61+2538del | |
| ENST00000679154.1:c.5_8del | ||
| ENST00000679271.1:n.35_38del | ||
| ENST00000679327.1:n.1100_1103del | ||
| ENST00000299697.11:c.129_132del | ENSP00000299697.8:p.Lys43AsnfsTer9 | |
| ENST00000417693.7:c.255_258del | ENSP00000407469.4:p.Lys85AsnfsTer9 | |
| ENST00000451102.6:c.255_258del | ENSP00000414334.3:p.Lys85AsnfsTer9 | |
| ENST00000525974.5:c.-163_-160del | ENSP00000434594.1:n.-163_-160del | |
| ENST00000527284.5:c.36_39del | ENSP00000435312.1:p.Lys12AsnfsTer9 | |
| ENST00000527800.5:c.-163_-160del | ENSP00000433770.1:n.-163_-160del | |
| ENST00000544898.5:c.129_132del | ENSP00000440898.2:p.Lys43AsnfsTer9 | |
| ENST00000545043.6:c.129_132del | ENSP00000438143.2:p.Lys43AsnfsTer11 | |
| ENST00000562484.2:c.-163_-160del | ENSP00000463326.1:n.-163_-160del | |
| ENST00000563369.6:c.-163_-160del | ENSP00000463560.1:n.-163_-160del | |
| ENST00000563478.5:c.-163_-160del | ENSP00000462341.1:n.-163_-160del | |
| ENST00000564917.5:c.129_132del | ENSP00000455187.1:p.Lys43AsnfsTer9 | |
| ENST00000567357.5:c.255_258del | ENSP00000457959.1:p.Lys85AsnfsTer9 | |
| ENST00000569718.5:c.23_26del | ||
| ENST00000620035.4:c.129_132del | ENSP00000483833.1:p.Lys43AsnfsTer9 | |
| NM_001172643.1:c.36_39del | NP_001166114.1:p.Lys12AsnfsTer9 | |
| NM_001172644.1:c.129_132del | NP_001166115.1:p.Lys43AsnfsTer11 | |
| NM_001172645.1:c.129_132del | NP_001166116.1:p.Lys43AsnfsTer9 | |
| NM_001271934.1:c.-114_-111del | NP_001258863.1:n.-114_-111del | |
| NM_001271935.1:c.36_39del | NP_001258864.1:p.Lys12AsnfsTer9 | |
| NM_001272050.1:c.-163_-160del | NP_001258979.1:n.-163_-160del | |
| NM_004614.4:c.129_132del | NP_004605.4:p.Lys43AsnfsTer9 | |
| NR_073520.1:n.1408_1411del | ||
| NM_001172644.2:c.129_132del | NP_001166115.1:p.Lys43AsnfsTer11 | |
| NM_001271934.2:c.-114_-111del | NP_001258863.1:n.-114_-111del | |
| NM_001272050.2:c.-163_-160del | NP_001258979.1:n.-163_-160del | |
| NM_004614.5:c.129_132del MANE Select | NP_004605.4:p.Lys43AsnfsTer9 | |
| NR_073520.2:n.1118_1121del | ||
| NM_001172645.2:c.129_132del | NP_001166116.1:p.Lys43AsnfsTer9 |