Linked Data
dbSNP Id:
rs1381062563
gnomAD v2:
17-41219255-T-TATTC
gnomAD v3:
17-43067238-T-TATTC
gnomAD v4:
17-43067238-T-TATTC
MyVariant Identifiers:
chr17:g.41219255_41219256insATTC (hg19)
chr17:g.43067238_43067239insATTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43067239_43067242dup , CM000679.2:g.43067239_43067242dup | GRCh38 |
| NC_000017.10:g.41219256_41219259dup , CM000679.1:g.41219256_41219259dup | GRCh37 |
| NC_000017.9:g.38472782_38472785dup | NCBI36 |
| NG_005905.2:g.150742_150745dup , LRG_292:g.150742_150745dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5071+366_5071+369dup | ENSP00000417241.2:n.5071+366_5071+369dup | |
| ENST00000470026.6:c.5074+366_5074+369dup | ENSP00000419274.2:n.5074+366_5074+369dup | |
| ENST00000473961.6:c.4948+366_4948+369dup | ENSP00000420201.2:n.4948+366_4948+369dup | |
| ENST00000476777.6:c.5068+366_5068+369dup | ENSP00000417554.2:n.5068+366_5068+369dup | |
| ENST00000477152.6:c.4996+366_4996+369dup | ENSP00000419988.2:n.4996+366_4996+369dup | |
| ENST00000478531.6:c.1762+366_1762+369dup | ENSP00000420412.2:n.1762+366_1762+369dup | |
| ENST00000489037.2:c.4996+366_4996+369dup | ENSP00000420781.2:n.4996+366_4996+369dup | |
| ENST00000493919.6:c.1624+366_1624+369dup | ENSP00000418819.2:n.1624+366_1624+369dup | |
| ENST00000494123.6:c.5074+366_5074+369dup | ENSP00000419103.2:n.5074+366_5074+369dup | |
| ENST00000497488.2:c.4186+366_4186+369dup | ENSP00000418986.2:n.4186+366_4186+369dup | |
| ENST00000618469.2:c.5074+366_5074+369dup | ENSP00000478114.2:n.5074+366_5074+369dup | |
| ENST00000634433.2:c.4951+366_4951+369dup | ENSP00000489431.2:n.4951+366_4951+369dup | |
| ENST00000644379.2:c.5140+366_5140+369dup | ENSP00000496570.2:n.5140+366_5140+369dup | |
| ENST00000644555.2:c.1624+366_1624+369dup | ENSP00000494614.2:n.1624+366_1624+369dup | |
| ENST00000652672.2:c.4933+366_4933+369dup | ENSP00000498906.2:n.4933+366_4933+369dup | |
| ENST00000484087.6:c.1636+366_1636+369dup | ENSP00000419481.2:n.1636+366_1636+369dup | |
| ENST00000357654.9:c.5074+366_5074+369dup MANE Select | ENSP00000350283.3:n.5074+366_5074+369dup | |
| ENST00000471181.7:c.5137+366_5137+369dup | ENSP00000418960.2:n.5137+366_5137+369dup | |
| ENST00000644379.1:c.1461+366_1461+369dup | ||
| ENST00000352993.7:c.1648+366_1648+369dup | ENSP00000312236.5:n.1648+366_1648+369dup | |
| ENST00000357654.7:c.5074+366_5074+369dup | ENSP00000350283.3:n.5074+366_5074+369dup | |
| ENST00000461221.5:c.*4857+366_*4857+369dup | ENSP00000418548.1:n.*4857+366_*4857+369dup | |
| ENST00000468300.5:c.1762+366_1762+369dup | ENSP00000417148.1:n.1762+366_1762+369dup | |
| ENST00000471181.6:c.5137+366_5137+369dup | ENSP00000418960.2:n.5137+366_5137+369dup | |
| ENST00000478531.5:c.1762+366_1762+369dup | ENSP00000420412.1:n.1762+366_1762+369dup | |
| ENST00000484087.5:c.1387+366_1387+369dup | ENSP00000419481.1:n.1387+366_1387+369dup | |
| ENST00000491747.6:c.1762+366_1762+369dup | ENSP00000420705.2:n.1762+366_1762+369dup | |
| ENST00000493795.5:c.4933+366_4933+369dup | ENSP00000418775.1:n.4933+366_4933+369dup | |
| ENST00000493919.5:c.1624+366_1624+369dup | ENSP00000418819.1:n.1624+366_1624+369dup | |
| ENST00000586385.5:c.5-3291_5-3288dup | ENSP00000465818.1:n.5-3291_5-3288dup | |
| ENST00000591534.5:c.547+366_547+369dup | ENSP00000467329.1:n.547+366_547+369dup | |
| ENST00000591849.5:c.-98-17052_-98-17049dup | ENSP00000465347.1:n.-98-17052_-98-17049dup | |
| NM_007294.3:c.5074+366_5074+369dup , LRG_292t1:c.5074+366_5074+369dup | NP_009225.1:n.5074+366_5074+369dup | |
| NM_007297.3:c.4933+366_4933+369dup | NP_009228.2:n.4933+366_4933+369dup | |
| NM_007298.3:c.1762+366_1762+369dup | NP_009229.2:n.1762+366_1762+369dup | |
| NM_007299.3:c.1762+366_1762+369dup | NP_009230.2:n.1762+366_1762+369dup | |
| NM_007300.3:c.5137+366_5137+369dup | NP_009231.2:n.5137+366_5137+369dup | |
| NR_027676.1:n.5210+366_5210+369dup | ||
| NM_007294.4:c.5074+366_5074+369dup MANE Select | NP_009225.1:n.5074+366_5074+369dup | |
| NM_007297.4:c.4933+366_4933+369dup | NP_009228.2:n.4933+366_4933+369dup | |
| NM_007299.4:c.1762+366_1762+369dup | NP_009230.2:n.1762+366_1762+369dup | |
| NM_007300.4:c.5137+366_5137+369dup | NP_009231.2:n.5137+366_5137+369dup | |
| NR_027676.2:n.5251+366_5251+369dup |