Linked Data
dbSNP Id:
rs1568247634
gnomAD v2:
19-4090577-GC-G
gnomAD v3:
19-4090579-GC-G
gnomAD v4:
19-4090579-GC-G
MyVariant Identifiers:
chr19:g.4090578del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4090580del , CM000681.2:g.4090580del | GRCh38 |
| NC_000019.9:g.4090578del , CM000681.1:g.4090578del | GRCh37 |
| NC_000019.8:g.4041578del | NCBI36 |
| NG_007996.1:g.38549del , LRG_750:g.38549del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.1660del | ||
| ENST00000688002.1:n.3372del | ||
| ENST00000688751.1:n.357del | ||
| ENST00000689792.1:n.1125del | ||
| ENST00000262948.10:c.*18del MANE Select | ENSP00000262948.4:n.*18del | |
| ENST00000262948.9:c.*18del | ENSP00000262948.3:n.*18del | |
| ENST00000394867.8:c.*18del | ENSP00000378336.1:n.*18del | |
| ENST00000597263.5:n.406del | ||
| ENST00000600584.5:n.2670del | ||
| ENST00000601786.5:n.1522del | ||
| NM_030662.3:c.*18del , LRG_750t1:c.*18del | NP_109587.1:n.*18del | |
| XM_006722799.2:c.*18del | XP_006722862.1:n.*18del | |
| XM_011528133.1:c.*18del | XP_011526435.1:n.*18del | |
| NM_030662.4:c.*18del MANE Select | NP_109587.1:n.*18del |