Linked Data
ClinVar Variation Id:
373383
ClinVar RCV Id:
RCV000412913
dbSNP Id:
rs1057518387
MyVariant Identifiers:
chr6:g.157488310_157488314dupAGCTC (hg19)
chr6:g.157167176_157167180dupAGCTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157167176_157167180dup , CM000668.2:g.157167176_157167180dup | GRCh38 |
| NC_000006.11:g.157488310_157488314dup , CM000668.1:g.157488310_157488314dup | GRCh37 |
| NC_000006.10:g.157530002_157530006dup | NCBI36 |
| NG_032093.1:g.394247_394251dup | |
| NG_032093.2:g.394247_394251dup | |
| NG_066624.1:g.396151_396155dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000350026.11:c.3226_3230dup | ENSP00000055163.8:p.Ala1079ArgfsTer10 | |
| ENST00000414678.8:c.3136_3140dup | ENSP00000412835.3:p.Ala1049ArgfsTer10 | |
| ENST00000637015.2:c.3355_3359dup | ENSP00000489729.2:p.Ala1122ArgfsTer10 | |
| ENST00000319584.11:c.1240_1244dup | ENSP00000313006.7:p.Ala417ArgfsTer10 | |
| ENST00000346085.10:c.3265_3269dup | ENSP00000344546.5:p.Ala1092ArgfsTer10 | |
| ENST00000350026.10:c.2977_2981dup | ENSP00000055163.7:p.Ala996ArgfsTer10 | |
| ENST00000414678.7:c.1384_1388dup | ENSP00000412835.2:p.Ala465ArgfsTer10 | |
| ENST00000635849.1:c.547_551dup | ENSP00000490948.1:p.Ala186ArgfsTer10 | |
| ENST00000635957.1:c.181_185dup | ENSP00000490385.1:p.Ala64ArgfsTer10 | |
| ENST00000636426.1:n.390_394dup | ||
| ENST00000636930.2:c.3226_3230dup MANE Select | ENSP00000490491.2:p.Ala1079ArgfsTer10 | |
| ENST00000637015.1:c.594_598dup | ||
| ENST00000637568.1:c.508_512dup | ||
| ENST00000637722.1:n.1162_1166dup | ||
| ENST00000637810.1:c.727_731dup | ENSP00000489636.1:p.Ala246ArgfsTer10 | |
| ENST00000637904.1:c.727_731dup | ENSP00000490550.1:p.Ala246ArgfsTer10 | |
| ENST00000647938.1:c.3016_3020dup | ENSP00000498155.1:p.Ala1009ArgfsTer10 | |
| ENST00000319584.10:c.1243_1247dup | ENSP00000313006.6:p.Ala418ArgfsTer10 | |
| ENST00000346085.9:c.3016_3020dup | ENSP00000344546.4:p.Ala1009ArgfsTer10 | |
| ENST00000350026.9:c.2977_2981dup | ENSP00000055163.7:p.Ala996ArgfsTer10 | |
| ENST00000400790.3:c.178_182dup | ENSP00000383596.3:p.Ala63ArgfsTer10 | |
| ENST00000414678.6:c.1384_1388dup | ENSP00000412835.2:p.Ala465ArgfsTer10 | |
| ENST00000478761.3:c.428_432dup | ||
| NM_017519.2:c.2977_2981dup | NP_059989.2:p.Ala996ArgfsTer10 | |
| NM_020732.3:c.3016_3020dup | NP_065783.3:p.Ala1009ArgfsTer10 | |
| XM_005267069.3:c.2977_2981dup | XP_005267126.2:p.Ala996ArgfsTer10 | |
| XM_011535984.1:c.2056_2060dup | XP_011534286.1:p.Ala689ArgfsTer10 | |
| XM_011535985.1:c.1876_1880dup | XP_011534287.1:p.Ala629ArgfsTer10 | |
| XM_011535986.1:c.1636_1640dup | XP_011534288.1:p.Ala549ArgfsTer10 | |
| XM_011535987.1:c.1255_1259dup | XP_011534289.1:p.Ala422ArgfsTer10 | |
| XM_011535988.1:c.118_122dup | XP_011534290.1:p.Ala43ArgfsTer10 | |
| NM_001346813.1:c.2977_2981dup | NP_001333742.1:p.Ala996ArgfsTer10 | |
| NM_001363725.1:c.727_731dup | NP_001350654.1:p.Ala246ArgfsTer10 | |
| XM_011535984.2:c.3187_3191dup | XP_011534286.2:p.Ala1066ArgfsTer10 | |
| XM_011535988.3:c.118_122dup | XP_011534290.1:p.Ala43ArgfsTer10 | |
| XM_017011103.2:c.3088_3092dup | XP_016866592.1:p.Ala1033ArgfsTer10 | |
| XM_017011104.1:c.3058_3062dup | XP_016866593.1:p.Ala1023ArgfsTer10 | |
| XM_017011105.2:c.3187_3191dup | XP_016866594.1:p.Ala1066ArgfsTer10 | |
| XM_017011106.2:c.3058_3062dup | XP_016866595.1:p.Ala1023ArgfsTer10 | |
| XM_017011107.2:c.2878_2882dup | XP_016866596.1:p.Ala963ArgfsTer10 | |
| XR_002956289.1:n.3270_3274dup | ||
| NM_001363725.2:c.727_731dup | NP_001350654.1:p.Ala246ArgfsTer10 | |
| NM_001371656.1:c.3265_3269dup | NP_001358585.1:p.Ala1092ArgfsTer10 | |
| NM_001374820.1:c.3265_3269dup | NP_001361749.1:p.Ala1092ArgfsTer10 | |
| NM_001374828.1:c.3226_3230dup MANE Select | NP_001361757.1:p.Ala1079ArgfsTer10 | |
| NM_017519.3:c.3226_3230dup | NP_059989.3:p.Ala1079ArgfsTer10 |