Linked Data
dbSNP Id:
rs587780147
MyVariant Identifiers:
chr5:g.131925377_131925383dupGATAAGA (hg19)
chr5:g.132589685_132589691dupGATAAGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132589685_132589691dup , CM000667.2:g.132589685_132589691dup | GRCh38 |
| NC_000005.9:g.131925377_131925383dup , CM000667.1:g.131925377_131925383dup | GRCh37 |
| NC_000005.8:g.131953276_131953282dup | NCBI36 |
| NG_021151.1:g.37762_37768dup | |
| NG_021151.2:g.37709_37715dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378823.8:c.1300_1306dup MANE Select | ENSP00000368100.4:p.Lys436ArgfsTer2 | |
| ENST00000638452.2:c.1003_1009dup | ENSP00000492349.2:p.Lys337ArgfsTer2 | |
| ENST00000638504.1:n.986_992dup | ||
| ENST00000638568.2:c.1003_1009dup | ENSP00000491158.2:p.Lys337ArgfsTer2 | |
| ENST00000639899.1:n.1819_1825dup | ||
| ENST00000640655.2:c.1003_1009dup | ENSP00000491596.2:p.Lys337ArgfsTer2 | |
| ENST00000651160.1:c.1300_1306dup | ENSP00000498829.1:p.Lys436ArgfsTer2 | |
| ENST00000651541.1:c.1003_1009dup | ENSP00000498795.1:p.Lys337ArgfsTer2 | |
| ENST00000651658.1:n.1727_1733dup | ||
| ENST00000651723.1:c.*1383_*1389dup | ENSP00000498237.1:n.*1383_*1389dup | |
| ENST00000652016.1:c.1300_1306dup | ENSP00000498267.1:p.Lys436ArgfsTer2 | |
| ENST00000652485.1:c.1300_1306dup | ENSP00000498973.1:p.Lys436ArgfsTer2 | |
| ENST00000378823.7:c.1300_1306dup | ENSP00000368100.4:p.Lys436ArgfsTer2 | |
| ENST00000423956.5:c.1300_1306dup | ENSP00000390971.1:p.Lys436ArgfsTer2 | |
| ENST00000453394.5:c.1300_1306dup | ENSP00000400049.1:p.Lys436ArgfsTer2 | |
| ENST00000533482.5:c.*926_*932dup | ENSP00000431225.1:n.*926_*932dup | |
| NM_005732.3:c.1300_1306dup | NP_005723.2:p.Lys436ArgfsTer2 | |
| NM_005732.4:c.1300_1306dup MANE Select | NP_005723.2:p.Lys436ArgfsTer2 |