Linked Data
ClinVar Variation Id:
16011
dbSNP Id:
rs63749801
ExAC:
17:42427630 TAGTC / T
gnomAD v2:
17-42427630-TAGTC-T
gnomAD v3:
17-44350262-TAGTC-T
gnomAD v4:
17-44350262-TAGTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44350266_44350269del , CM000679.2:g.44350266_44350269del | GRCh38 |
| NC_000017.10:g.42427634_42427637del , CM000679.1:g.42427634_42427637del | GRCh37 |
| NC_000017.9:g.39783160_39783163del | NCBI36 |
| NG_007886.1:g.10144_10147del , LRG_661:g.10144_10147del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000053867.8:c.388_391del MANE Select | ENSP00000053867.2:p.Gln130SerfsTer? | |
| ENST00000639447.1:c.388_391del | ENSP00000492014.1:p.Gln130SerfsTer? | |
| ENST00000053867.7:c.388_391del | ENSP00000053867.2:p.Gln130SerfsTer? | |
| ENST00000586782.5:c.388_391del | ENSP00000468318.1:p.Gln130SerfsTer? | |
| ENST00000587387.5:c.430_433del | ENSP00000467431.1:p.Gln144SerfsTer? | |
| ENST00000587518.5:c.388_391del | ENSP00000465518.1:p.Gln130SerfsTer? | |
| ENST00000588143.5:c.388_391del | ENSP00000465375.1:p.Gln130SerfsTer? | |
| ENST00000588237.5:c.265-176_265-173del | ENSP00000466611.1:n.265-176_265-173del | |
| ENST00000589265.5:c.388_391del | ENSP00000467616.1:p.Gln130SerfsTer? | |
| ENST00000591740.5:c.388_391del | ENSP00000467022.1:p.Gln130SerfsTer? | |
| ENST00000592783.5:c.388_391del | ENSP00000467870.1:p.Gln130SerfsTer? | |
| ENST00000593167.5:c.388_391del | ENSP00000466405.1:p.Gln130SerfsTer? | |
| NM_002087.3:c.388_391del | NP_002078.1:p.Gln130SerfsTer? | |
| XM_005257253.1:c.388_391del | XP_005257310.1:p.Gln130SerfsTer? | |
| XM_024450730.1:c.388_391del | XP_024306498.1:p.Gln130SerfsTer? | |
| NM_002087.4:c.388_391del MANE Select | NP_002078.1:p.Gln130SerfsTer? |