Identifiers and link-outs to other resources
ClinVar Variation Id:
17673
ClinVar RCV Id:
RCV000019242
RCV000048314
RCV000131810
RCV000167859
RCV000239051
RCV000735506
RCV000782127
RCV000785410
ExAC:
17:41243788 TAGAC / T
gnomAD:
17:41243788 TAGAC / T
User contributed link-outs
PubMed:
PMID:7894491
PMID:8531967
PMID:10486320
PMID:10506595
PMID:10644434
PMID:10952774
PMID:11139249
PMID:11183185
PMID:11802209
PMID:12393792
PMID:12947551
PMID:15024741
PMID:16168118
PMID:16847550
PMID:18752448
PMID:19241424
PMID:19491284
PMID:19863560
PMID:20104584
PMID:20727672
PMID:21324516
PMID:21371001
PMID:21989927
PMID:22711857
PMID:22798144
PMID:22864640
PMID:23621881
PMID:26295337
PMID:26843898
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43091772_43091775del , CM000679.2:g.43091772_43091775del | GRCh38 |
| NC_000017.10:g.41243789_41243792del , CM000679.1:g.41243789_41243792del | GRCh37 |
| NC_000017.9:g.38497315_38497318del | NCBI36 |
| NG_005905.2:g.126204_126207del , LRG_292:g.126204_126207del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NM_007294.3:c.3751_3754del , LRG_292t1:c.3751_3754del | NP_009225.1:p.Ser1253ArgfsTer10 | |
| NM_007297.3:c.3610_3613del VV | NP_009228.2:p.Ser1206ArgfsTer10 | |
| NM_007298.3:c.788-748_788-745del VV | NP_009229.2:p.= | |
| NM_007299.3:c.788-748_788-745del VV | NP_009230.2:p.= | |
| NM_007300.3:c.3751_3754del VV | NP_009231.2:p.Ser1253ArgfsTer10 | |
| NR_027676.1:n.3887_3890del | ||
| NM_007294.4:c.3751_3754del VV MANE Preferred | NP_009225.1:p.Ser1253ArgfsTer10 | |
| NM_007297.4:c.3610_3613del VV | NP_009228.2:p.Ser1206ArgfsTer10 | |
| NM_007299.4:c.788-748_788-745del VV | NP_009230.2:p.= | |
| NM_007300.4:c.3751_3754del VV | NP_009231.2:p.Ser1253ArgfsTer10 | |
| NR_027676.2:n.3928_3931del | ||
| ENST00000352993.7:c.671-748_671-745del | ENSP00000312236.5:p.= | |
| ENST00000354071.7:c.3751_3754del | ENSP00000326002.7:p.Ser1253ArgfsTer10 | |
| ENST00000357654.7:c.3751_3754del | ENSP00000350283.3:p.Ser1253ArgfsTer10 | |
| ENST00000461221.5:c.*3534_*3537del | ENSP00000418548.1:p.= | |
| ENST00000461574.1:n.45_48del | ||
| ENST00000468300.5:c.788-748_788-745del | ENSP00000417148.1:p.= | |
| ENST00000471181.6:c.3751_3754del | ENSP00000418960.2:p.Ser1253ArgfsTer10 | |
| ENST00000478531.5:c.785-748_785-745del | ENSP00000420412.1:p.= | |
| ENST00000484087.5:n.410-748_410-745del | ENSP00000419481.1:p.= | |
| ENST00000487825.5:n.413-748_413-745del | ENSP00000418212.1:p.= | |
| ENST00000491747.6:c.788-748_788-745del | ENSP00000420705.2:p.= | |
| ENST00000493795.5:c.3610_3613del | ENSP00000418775.1:p.Ser1206ArgfsTer10 | |
| ENST00000493919.5:c.647-748_647-745del | ENSP00000418819.1:p.= | |
| ENST00000586385.5:c.5-27829_5-27826del | ENSP00000465818.1:p.= | |
| ENST00000591534.5:c.-43-17259_-43-17256del | ENSP00000467329.1:p.= | |
| ENST00000591849.5:c.-99+33491_-99+33494del | ENSP00000465347.1:p.= |