Linked Data
ClinVar Variation Id:
267576
ClinVar RCV Id:
RCV000258170
dbSNP Id:
rs397509224
MyVariant Identifiers:
chr17:g.41215963_41215966delinsGCAGAATCAA (hg19)
chr17:g.43063946_43063949delinsGCAGAATCAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43063946_43063949delinsGCAGAATCAA , CM000679.2:g.43063946_43063949delinsGCAGAATCAA | GRCh38 |
| NC_000017.10:g.41215963_41215966delinsGCAGAATCAA , CM000679.1:g.41215963_41215966delinsGCAGAATCAA | GRCh37 |
| NC_000017.9:g.38469489_38469492delinsGCAGAATCAA | NCBI36 |
| NG_005905.2:g.154035_154038delinsTTGATTCTGC , LRG_292:g.154035_154038delinsTTGATTCTGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5074_5077delinsTTGATTCTGC | ENSP00000417241.2:p.Ala1692_Glu1693delinsLeuIleLeuGln | |
| ENST00000470026.6:c.5077_5080delinsTTGATTCTGC | ENSP00000419274.2:p.Ala1693_Glu1694delinsLeuIleLeuGln | |
| ENST00000473961.6:c.4951_4954delinsTTGATTCTGC | ENSP00000420201.2:p.Ala1651_Glu1652delinsLeuIleLeuGln | |
| ENST00000476777.6:c.5071_5074delinsTTGATTCTGC | ENSP00000417554.2:p.Ala1691_Glu1692delinsLeuIleLeuGln | |
| ENST00000477152.6:c.4999_5002delinsTTGATTCTGC | ENSP00000419988.2:p.Ala1667_Glu1668delinsLeuIleLeuGln | |
| ENST00000478531.6:c.1765_1768delinsTTGATTCTGC | ENSP00000420412.2:p.Ala589_Glu590delinsLeuIleLeuGln | |
| ENST00000489037.2:c.4999_5002delinsTTGATTCTGC | ENSP00000420781.2:p.Ala1667_Glu1668delinsLeuIleLeuGln | |
| ENST00000493919.6:c.1627_1630delinsTTGATTCTGC | ENSP00000418819.2:p.Ala543_Glu544delinsLeuIleLeuGln | |
| ENST00000494123.6:c.5077_5080delinsTTGATTCTGC | ENSP00000419103.2:p.Ala1693_Glu1694delinsLeuIleLeuGln | |
| ENST00000497488.2:c.4189_4192delinsTTGATTCTGC | ENSP00000418986.2:p.Ala1397_Glu1398delinsLeuIleLeuGln | |
| ENST00000618469.2:c.5077_5080delinsTTGATTCTGC | ENSP00000478114.2:p.Ala1693_Glu1694delinsLeuIleLeuGln | |
| ENST00000634433.2:c.4954_4957delinsTTGATTCTGC | ENSP00000489431.2:p.Ala1652_Glu1653delinsLeuIleLeuGln | |
| ENST00000644379.2:c.5143_5146delinsTTGATTCTGC | ENSP00000496570.2:p.Ala1715_Glu1716delinsLeuIleLeuGln | |
| ENST00000644555.2:c.1627_1630delinsTTGATTCTGC | ENSP00000494614.2:p.Ala543_Glu544delinsLeuIleLeuGln | |
| ENST00000652672.2:c.4936_4939delinsTTGATTCTGC | ENSP00000498906.2:p.Ala1646_Glu1647delinsLeuIleLeuGln | |
| ENST00000484087.6:c.1639_1642delinsTTGATTCTGC | ENSP00000419481.2:p.Ala547_Glu548delinsLeuIleLeuGln | |
| ENST00000357654.9:c.5077_5080delinsTTGATTCTGC MANE Select | ENSP00000350283.3:p.Ala1693_Glu1694delinsLeuIleLeuGln | |
| ENST00000471181.7:c.5140_5143delinsTTGATTCTGC | ENSP00000418960.2:p.Ala1714_Glu1715delinsLeuIleLeuGln | |
| ENST00000644379.1:c.1464_1467delinsTTGATTCTGC | ||
| ENST00000352993.7:c.1651_1654delinsTTGATTCTGC | ENSP00000312236.5:p.Ala551_Glu552delinsLeuIleLeuGln | |
| ENST00000357654.7:c.5077_5080delinsTTGATTCTGC | ENSP00000350283.3:p.Ala1693_Glu1694delinsLeuIleLeuGln | |
| ENST00000461221.5:c.*4860_*4863delinsTTGATTCTGC | ENSP00000418548.1:n.*4860_*4863delinsTTGATTCTGC | |
| ENST00000468300.5:c.1765_1768delinsTTGATTCTGC | ENSP00000417148.1:p.Ala589_Glu590delinsLeuIleLeuGln | |
| ENST00000471181.6:c.5140_5143delinsTTGATTCTGC | ENSP00000418960.2:p.Ala1714_Glu1715delinsLeuIleLeuGln | |
| ENST00000478531.5:c.1765_1768delinsTTGATTCTGC | ENSP00000420412.1:p.Ala589_Glu590delinsLeuIleLeuGln | |
| ENST00000484087.5:c.1390_1393delinsTTGATTCTGC | ENSP00000419481.1:p.Ala464_Glu465delinsLeuIleLeuGln | |
| ENST00000491747.6:c.1765_1768delinsTTGATTCTGC | ENSP00000420705.2:p.Ala589_Glu590delinsLeuIleLeuGln | |
| ENST00000493795.5:c.4936_4939delinsTTGATTCTGC | ENSP00000418775.1:p.Ala1646_Glu1647delinsLeuIleLeuGln | |
| ENST00000493919.5:c.1627_1630delinsTTGATTCTGC | ENSP00000418819.1:p.Ala543_Glu544delinsLeuIleLeuGln | |
| ENST00000586385.5:c.7_10delinsTTGATTCTGC | ENSP00000465818.1:p.Ala3_Glu4delinsLeuIleLeuGln | |
| ENST00000591534.5:c.550_553delinsTTGATTCTGC | ENSP00000467329.1:p.Ala184_Glu185delinsLeuIleLeuGln | |
| ENST00000591849.5:c.-98-13759_-98-13756delinsTTGATTCTGC | ENSP00000465347.1:n.-98-13759_-98-13756delinsTTGATTCTGC | |
| NM_007294.3:c.5077_5080delinsTTGATTCTGC , LRG_292t1:c.5077_5080delinsTTGATTCTGC | NP_009225.1:p.Ala1693_Glu1694delinsLeuIleLeuGln | |
| NM_007297.3:c.4936_4939delinsTTGATTCTGC | NP_009228.2:p.Ala1646_Glu1647delinsLeuIleLeuGln | |
| NM_007298.3:c.1765_1768delinsTTGATTCTGC | NP_009229.2:p.Ala589_Glu590delinsLeuIleLeuGln | |
| NM_007299.3:c.1765_1768delinsTTGATTCTGC | NP_009230.2:p.Ala589_Glu590delinsLeuIleLeuGln | |
| NM_007300.3:c.5140_5143delinsTTGATTCTGC | NP_009231.2:p.Ala1714_Glu1715delinsLeuIleLeuGln | |
| NR_027676.1:n.5213_5216delinsTTGATTCTGC | ||
| NM_007294.4:c.5077_5080delinsTTGATTCTGC MANE Select | NP_009225.1:p.Ala1693_Glu1694delinsLeuIleLeuGln | |
| NM_007297.4:c.4936_4939delinsTTGATTCTGC | NP_009228.2:p.Ala1646_Glu1647delinsLeuIleLeuGln | |
| NM_007299.4:c.1765_1768delinsTTGATTCTGC | NP_009230.2:p.Ala589_Glu590delinsLeuIleLeuGln | |
| NM_007300.4:c.5140_5143delinsTTGATTCTGC | NP_009231.2:p.Ala1714_Glu1715delinsLeuIleLeuGln | |
| NR_027676.2:n.5254_5257delinsTTGATTCTGC |