Linked Data
ClinVar Variation Id:
55356
ClinVar RCV Id:
RCV000112465
dbSNP Id:
rs80357894
PubMed:
PMID:9361038
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43067648_43067658del , CM000679.2:g.43067648_43067658del | GRCh38 |
| NC_000017.10:g.41219665_41219675del , CM000679.1:g.41219665_41219675del | GRCh37 |
| NC_000017.9:g.38473191_38473201del | NCBI36 |
| NG_005905.2:g.150328_150338del , LRG_292:g.150328_150338del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461574.2:c.5023_5033del | ENSP00000417241.2:p.Leu1675AsnfsTer3 | |
| ENST00000470026.6:c.5026_5036del | ENSP00000419274.2:p.Leu1676AsnfsTer3 | |
| ENST00000473961.6:c.4900_4910del | ENSP00000420201.2:p.Leu1634AsnfsTer3 | |
| ENST00000476777.6:c.5020_5030del | ENSP00000417554.2:p.Leu1674AsnfsTer3 | |
| ENST00000477152.6:c.4948_4958del | ENSP00000419988.2:p.Leu1650AsnfsTer3 | |
| ENST00000478531.6:c.1714_1724del | ENSP00000420412.2:p.Leu572AsnfsTer3 | |
| ENST00000489037.2:c.4948_4958del | ENSP00000420781.2:p.Leu1650AsnfsTer3 | |
| ENST00000493919.6:c.1576_1586del | ENSP00000418819.2:p.Leu526AsnfsTer3 | |
| ENST00000494123.6:c.5026_5036del | ENSP00000419103.2:p.Leu1676AsnfsTer3 | |
| ENST00000497488.2:c.4138_4148del | ENSP00000418986.2:p.Leu1380AsnfsTer3 | |
| ENST00000618469.2:c.5026_5036del | ENSP00000478114.2:p.Leu1676AsnfsTer3 | |
| ENST00000634433.2:c.4903_4913del | ENSP00000489431.2:p.Leu1635AsnfsTer3 | |
| ENST00000644379.2:c.5092_5102del | ENSP00000496570.2:p.Leu1698AsnfsTer3 | |
| ENST00000644555.2:c.1576_1586del | ENSP00000494614.2:p.Leu526AsnfsTer3 | |
| ENST00000652672.2:c.4885_4895del | ENSP00000498906.2:p.Leu1629AsnfsTer3 | |
| ENST00000484087.6:c.1588_1598del | ENSP00000419481.2:p.Leu530AsnfsTer3 | |
| ENST00000357654.9:c.5026_5036del MANE Select | ENSP00000350283.3:p.Leu1676AsnfsTer3 | |
| ENST00000471181.7:c.5089_5099del | ENSP00000418960.2:p.Leu1697AsnfsTer3 | |
| ENST00000644379.1:c.1413_1423del | ||
| ENST00000352993.7:c.1600_1610del | ENSP00000312236.5:p.Leu534AsnfsTer3 | |
| ENST00000357654.7:c.5026_5036del | ENSP00000350283.3:p.Leu1676AsnfsTer3 | |
| ENST00000461221.5:c.*4809_*4819del | ENSP00000418548.1:n.*4809_*4819del | |
| ENST00000468300.5:c.1714_1724del | ENSP00000417148.1:p.Leu572AsnfsTer3 | |
| ENST00000471181.6:c.5089_5099del | ENSP00000418960.2:p.Leu1697AsnfsTer3 | |
| ENST00000472490.1:n.179_189del | ||
| ENST00000478531.5:c.1714_1724del | ENSP00000420412.1:p.Leu572AsnfsTer3 | |
| ENST00000484087.5:c.1339_1349del | ENSP00000419481.1:p.Leu447AsnfsTer3 | |
| ENST00000491747.6:c.1714_1724del | ENSP00000420705.2:p.Leu572AsnfsTer3 | |
| ENST00000493795.5:c.4885_4895del | ENSP00000418775.1:p.Leu1629AsnfsTer3 | |
| ENST00000493919.5:c.1576_1586del | ENSP00000418819.1:p.Leu526AsnfsTer3 | |
| ENST00000586385.5:c.5-3705_5-3695del | ENSP00000465818.1:n.5-3705_5-3695del | |
| ENST00000591534.5:c.499_509del | ENSP00000467329.1:p.Leu167AsnfsTer3 | |
| ENST00000591849.5:c.-98-17466_-98-17456del | ENSP00000465347.1:n.-98-17466_-98-17456de... | |
| NM_007294.3:c.5026_5036del , LRG_292t1:c.5026_5036del | NP_009225.1:p.Leu1676AsnfsTer3 | |
| NM_007297.3:c.4885_4895del | NP_009228.2:p.Leu1629AsnfsTer3 | |
| NM_007298.3:c.1714_1724del | NP_009229.2:p.Leu572AsnfsTer3 | |
| NM_007299.3:c.1714_1724del | NP_009230.2:p.Leu572AsnfsTer3 | |
| NM_007300.3:c.5089_5099del | NP_009231.2:p.Leu1697AsnfsTer3 | |
| NR_027676.1:n.5162_5172del | ||
| NM_007294.4:c.5026_5036del MANE Select | NP_009225.1:p.Leu1676AsnfsTer3 | |
| NM_007297.4:c.4885_4895del | NP_009228.2:p.Leu1629AsnfsTer3 | |
| NM_007299.4:c.1714_1724del | NP_009230.2:p.Leu572AsnfsTer3 | |
| NM_007300.4:c.5089_5099del | NP_009231.2:p.Leu1697AsnfsTer3 | |
| NR_027676.2:n.5203_5213del |