Linked Data
gnomAD v4:
10-119670128-AGGTGGCAGCGGC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119670131_119670142del , CM000672.2:g.119670131_119670142del | GRCh38 |
| NC_000010.10:g.121429643_121429654del , CM000672.1:g.121429643_121429654del | GRCh37 |
| NC_000010.9:g.121419633_121419644del | NCBI36 |
| NG_016125.1:g.23762_23773del , LRG_742:g.23762_23773del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369085.8:c.461_472del MANE Select | ENSP00000358081.4:p.Val154_Ala157del | |
| ENST00000369085.7:c.461_472del | ENSP00000358081.3:p.Val154_Ala157del | |
| ENST00000450186.1:c.287_298del | ENSP00000410036.1:p.Val96_Ala99del | |
| NM_004281.3:c.461_472del , LRG_742t1:c.461_472del | NP_004272.2:p.Val154_Ala157del | |
| XM_005270287.1:c.461_472del | XP_005270344.1:p.Val154_Ala157del | |
| XM_005270287.2:c.461_472del | XP_005270344.1:p.Val154_Ala157del | |
| NM_004281.4:c.461_472del MANE Select | NP_004272.2:p.Val154_Ala157del |