Linked Data
dbSNP Id:
rs1568395304
gnomAD v2:
19-2251927-ATGG-A
gnomAD v4:
19-2251928-ATGG-A
MyVariant Identifiers:
chr19:g.2251928_2251930del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2251932_2251934del , CM000681.2:g.2251932_2251934del | GRCh38 |
| NC_000019.9:g.2251931_2251933del , CM000681.1:g.2251931_2251933del | GRCh37 |
| NC_000019.8:g.2202931_2202933del | NCBI36 |
| NG_012190.1:g.7819_7821del | |
| NG_032853.1:g.9493_9495del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221496.5:c.1658_1660del MANE Select | ENSP00000221496.2:p.Val553del | |
| ENST00000221496.4:c.1658_1660del | ENSP00000221496.2:p.Val553del | |
| NM_000479.3:c.1658_1660del | NP_000470.2:p.Val553del | |
| NM_000479.4:c.1658_1660del | NP_000470.2:p.Val553del | |
| NM_000479.5:c.1658_1660del MANE Select | NP_000470.3:p.Val553del |