Linked Data
ClinVar Variation Id:
37616
ClinVar RCV Id:
RCV001353483
dbSNP Id:
rs80359876
gnomAD v2:
17-41222948-TTCTTCTGGGGTCAGGCCAG-T
gnomAD v4:
17-43070931-TTCTTCTGGGGTCAGGCCAG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43070932_43070950del , CM000679.2:g.43070932_43070950del | GRCh38 |
| NC_000017.10:g.41222949_41222967del , CM000679.1:g.41222949_41222967del | GRCh37 |
| NC_000017.9:g.38476475_38476493del | NCBI36 |
| NG_005905.2:g.147034_147052del , LRG_292:g.147034_147052del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461574.2:c.4961_4979del | ENSP00000417241.2:p.Ser1654TyrfsTer16 | |
| ENST00000470026.6:c.4964_4982del | ENSP00000419274.2:p.Ser1655TyrfsTer16 | |
| ENST00000473961.6:c.4838_4856del | ENSP00000420201.2:p.Ser1613TyrfsTer16 | |
| ENST00000476777.6:c.4958_4976del | ENSP00000417554.2:p.Ser1653TyrfsTer16 | |
| ENST00000477152.6:c.4886_4904del | ENSP00000419988.2:p.Ser1629TyrfsTer16 | |
| ENST00000478531.6:c.1652_1670del | ENSP00000420412.2:p.Ser551TyrfsTer16 | |
| ENST00000489037.2:c.4886_4904del | ENSP00000420781.2:p.Ser1629TyrfsTer16 | |
| ENST00000493919.6:c.1514_1532del | ENSP00000418819.2:p.Ser505TyrfsTer16 | |
| ENST00000494123.6:c.4964_4982del | ENSP00000419103.2:p.Ser1655TyrfsTer16 | |
| ENST00000497488.2:c.4076_4094del | ENSP00000418986.2:p.Ser1359TyrfsTer16 | |
| ENST00000618469.2:c.4964_4982del | ENSP00000478114.2:p.Ser1655TyrfsTer16 | |
| ENST00000634433.2:c.4841_4859del | ENSP00000489431.2:p.Ser1614TyrfsTer16 | |
| ENST00000644379.2:c.5030_5048del | ENSP00000496570.2:p.Ser1677TyrfsTer16 | |
| ENST00000644555.2:c.1514_1532del | ENSP00000494614.2:p.Ser505TyrfsTer16 | |
| ENST00000652672.2:c.4823_4841del | ENSP00000498906.2:p.Ser1608TyrfsTer16 | |
| ENST00000484087.6:c.1526_1544del | ENSP00000419481.2:p.Ser509TyrfsTer16 | |
| ENST00000700182.1:c.1571_1589del | ENSP00000514849.1:p.Ser524TyrfsTer3 | |
| ENST00000357654.9:c.4964_4982del MANE Select | ENSP00000350283.3:p.Ser1655TyrfsTer16 | |
| ENST00000471181.7:c.5027_5045del | ENSP00000418960.2:p.Ser1676TyrfsTer16 | |
| ENST00000644379.1:c.1351_1369del | ||
| ENST00000352993.7:c.1538_1556del | ENSP00000312236.5:p.Ser513TyrfsTer16 | |
| ENST00000357654.7:c.4964_4982del | ENSP00000350283.3:p.Ser1655TyrfsTer16 | |
| ENST00000461221.5:c.*4747_*4765del | ENSP00000418548.1:n.*4747_*4765del | |
| ENST00000468300.5:c.1652_1670del | ENSP00000417148.1:p.Ser551TyrfsTer16 | |
| ENST00000471181.6:c.5027_5045del | ENSP00000418960.2:p.Ser1676TyrfsTer16 | |
| ENST00000472490.1:n.117_135del | ||
| ENST00000478531.5:c.1652_1670del | ENSP00000420412.1:p.Ser551TyrfsTer16 | |
| ENST00000484087.5:c.1277_1295del | ENSP00000419481.1:p.Ser426TyrfsTer16 | |
| ENST00000491747.6:c.1652_1670del | ENSP00000420705.2:p.Ser551TyrfsTer16 | |
| ENST00000493795.5:c.4823_4841del | ENSP00000418775.1:p.Ser1608TyrfsTer16 | |
| ENST00000493919.5:c.1514_1532del | ENSP00000418819.1:p.Ser505TyrfsTer16 | |
| ENST00000586385.5:c.5-6999_5-6981del | ENSP00000465818.1:n.5-6999_5-6981del | |
| ENST00000591534.5:c.437_455del | ENSP00000467329.1:p.Ser146TyrfsTer16 | |
| ENST00000591849.5:c.-98-20760_-98-20742del | ENSP00000465347.1:n.-98-20760_-98-20742de... | |
| NM_007294.3:c.4964_4982del , LRG_292t1:c.4964_4982del | NP_009225.1:p.Ser1655TyrfsTer16 | |
| NM_007297.3:c.4823_4841del | NP_009228.2:p.Ser1608TyrfsTer16 | |
| NM_007298.3:c.1652_1670del | NP_009229.2:p.Ser551TyrfsTer16 | |
| NM_007299.3:c.1652_1670del | NP_009230.2:p.Ser551TyrfsTer16 | |
| NM_007300.3:c.5027_5045del | NP_009231.2:p.Ser1676TyrfsTer16 | |
| NR_027676.1:n.5100_5118del | ||
| NM_007294.4:c.4964_4982del MANE Select | NP_009225.1:p.Ser1655TyrfsTer16 | |
| NM_007297.4:c.4823_4841del | NP_009228.2:p.Ser1608TyrfsTer16 | |
| NM_007299.4:c.1652_1670del | NP_009230.2:p.Ser551TyrfsTer16 | |
| NM_007300.4:c.5027_5045del | NP_009231.2:p.Ser1676TyrfsTer16 | |
| NR_027676.2:n.5141_5159del |