Linked Data
dbSNP Id:
rs757650846
gnomAD v3:
10-53806645-C-CTGTG
gnomAD v4:
10-53806645-C-CTGTG
MyVariant Identifiers:
chr10:g.55566405_55566406insTGTG (hg19)
chr10:g.53806645_53806646insTGTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.53806650_53806653dup , CM000672.2:g.53806650_53806653dup | GRCh38 |
| NC_000010.10:g.55566410_55566413dup , CM000672.1:g.55566410_55566413dup | GRCh37 |
| NC_000010.9:g.55236416_55236419dup | NCBI36 |
| NG_009191.2:g.999643_999646dup | |
| NG_009191.3:g.1827534_1827537dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642496.1:c.4012_4015dup | ||
| ENST00000644397.2:c.5153_5156dup MANE Select | ENSP00000495195.1:p.Gln1719HisfsTer4 | |
| ENST00000373965.6:c.4964_4967dup | ENSP00000363076.3:p.Gln1656HisfsTer4 | |
| ENST00000414778.5:c.4961_4964dup | ENSP00000410304.2:p.Gln1655HisfsTer4 | |
| ENST00000495484.5:c.1181_1184dup | ENSP00000480780.1:p.Gln395HisfsTer4 | |
| ENST00000614895.4:c.4976_4979dup | ENSP00000478512.1:p.Gln1660HisfsTer4 | |
| ENST00000616114.4:c.4958_4961dup | ENSP00000483745.1:p.Gln1654HisfsTer4 | |
| ENST00000618301.4:c.1313_1316dup | ENSP00000482780.1:p.Gln439HisfsTer4 | |
| ENST00000621708.4:c.4979_4982dup | ENSP00000484454.1:p.Gln1661HisfsTer4 | |
| NM_001142771.1:c.4979_4982dup | NP_001136243.1:p.Gln1661HisfsTer4 | |
| NM_001142772.1:c.4964_4967dup | NP_001136244.1:p.Gln1656HisfsTer4 | |
| NM_001354420.1:c.4958_4961dup | NP_001341349.1:p.Gln1654HisfsTer4 | |
| NM_001354429.1:c.5087_5090dup | NP_001341358.1:p.Gln1697HisfsTer4 | |
| XR_001747192.2:n.11445_11448dup | ||
| XR_001747193.2:n.11436_11439dup | ||
| NM_001142771.2:c.4979_4982dup | NP_001136243.1:p.Gln1661HisfsTer4 | |
| NM_001142772.2:c.4964_4967dup | NP_001136244.1:p.Gln1656HisfsTer4 | |
| NM_001354420.2:c.4958_4961dup | NP_001341349.1:p.Gln1654HisfsTer4 | |
| NM_001354429.2:c.5087_5090dup | NP_001341358.1:p.Gln1697HisfsTer4 | |
| NM_001384140.1:c.5153_5156dup MANE Select | NP_001371069.1:p.Gln1719HisfsTer4 |