ClinVar Variation:
dbSNP:
MyVariant.info:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119672602_119672606dup , CM000672.2:g.119672602_119672606dup | GRCh38 |
| NC_000010.10:g.121432114_121432118dup , CM000672.1:g.121432114_121432118dup | GRCh37 |
| NC_000010.9:g.121422104_121422108dup | NCBI36 |
| NG_016125.1:g.26233_26237dup , LRG_742:g.26233_26237dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.855_859dup MANE Select | ENSP00000358081.4:p.Leu287ArgfsTer22 | |
| ENST00000369085.7:c.855_859dup | ENSP00000358081.3:p.Leu287ArgfsTer22 | |
| ENST00000450186.1:c.681_685dup | ENSP00000410036.1:p.Leu229ArgfsTer21 | |
| NM_004281.3:c.855_859dup , LRG_742t1:c.855_859dup | NP_004272.2:p.Leu287ArgfsTer22 | |
| XM_005270287.1:c.855_859dup | XP_005270344.1:p.Leu287ArgfsTer21 | |
| XM_005270287.2:c.855_859dup | XP_005270344.1:p.Leu287ArgfsTer21 | |
| NM_004281.4:c.855_859dup MANE Select | NP_004272.2:p.Leu287ArgfsTer22 |