Linked Data
dbSNP Id:
rs1568513944
gnomAD v2:
19-51411572-AC-A
gnomAD v4:
19-50908316-AC-A
MyVariant Identifiers:
chr19:g.51411573del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50908319del , CM000681.2:g.50908319del | GRCh38 |
| NC_000019.9:g.51411575del , CM000681.1:g.51411575del | GRCh37 |
| NC_000019.8:g.56103387del | NCBI36 |
| NG_012154.2:g.7422del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324041.6:c.612+42del MANE Select | ENSP00000326159.1:n.612+42del | |
| ENST00000324041.5:c.612+42del | ENSP00000326159.1:n.612+42del | |
| ENST00000431178.2:c.328+262del | ENSP00000399448.2:n.328+262del | |
| ENST00000593885.1:c.*107+42del | ENSP00000469769.1:n.*107+42del | |
| ENST00000596876.1:n.656del | ||
| ENST00000598305.5:c.*107+42del | ENSP00000469963.1:n.*107+42del | |
| ENST00000599865.5:n.548+42del | ||
| ENST00000602148.1:c.624+42del | ENSP00000472091.1:n.624+42del | |
| NM_001302961.1:c.327+42del | NP_001289890.1:n.327+42del | |
| NM_004917.4:c.612+42del | NP_004908.4:n.612+42del | |
| NR_126566.1:n.601+42del | ||
| XM_005259441.3:c.327+42del | XP_005259498.2:n.327+42del | |
| XM_011527546.1:c.475+262del | XP_011525848.1:n.475+262del | |
| XM_011527547.1:c.465+42del | XP_011525849.1:n.465+42del | |
| XM_005259441.4:c.327+42del | XP_005259498.2:n.327+42del | |
| XM_011527546.2:c.475+262del | XP_011525848.1:n.475+262del | |
| NM_001302961.2:c.327+42del | NP_001289890.1:n.327+42del | |
| NR_126566.2:n.601+42del | ||
| NM_004917.5:c.612+42del MANE Select | NP_004908.4:n.612+42del |