Linked Data
dbSNP Id:
rs1846840742
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119651641_119651653del , CM000672.2:g.119651641_119651653del | GRCh38 |
| NC_000010.10:g.121411153_121411165del , CM000672.1:g.121411153_121411165del | GRCh37 |
| NC_000010.9:g.121401143_121401155del | NCBI36 |
| NG_016125.1:g.5272_5284del , LRG_742:g.5272_5284del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369085.8:c.-35_-23del MANE Select | ENSP00000358081.4:n.-35_-23del | |
| ENST00000369085.7:c.-35_-23del | ENSP00000358081.3:n.-35_-23del | |
| NM_004281.3:c.-35_-23del , LRG_742t1:c.-35_-23del | NP_004272.2:n.-35_-23del | |
| XM_005270287.1:c.-35_-23del | XP_005270344.1:n.-35_-23del | |
| XM_005270287.2:c.-35_-23del | XP_005270344.1:n.-35_-23del | |
| NM_004281.4:c.-35_-23del MANE Select | NP_004272.2:n.-35_-23del |