Linked Data
dbSNP Id:
rs3833881
ExAC:
19:1056018 GC / G
gnomAD v2:
19-1056018-GC-G
gnomAD v3:
19-1056019-GC-G
gnomAD v4:
19-1056019-GC-G
COSMIC:
COSN20042640
MyVariant Identifiers:
chr19:g.1056019del (hg19)
chr19:g.1056021del (hg38)
chr19:g.1056020del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1056026del , CM000681.2:g.1056026del | GRCh38 |
| NC_000019.9:g.1056025del , CM000681.1:g.1056025del | GRCh37 |
| NC_000019.8:g.1007025del | NCBI36 |
| NG_046909.1:g.20924del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263094.11:c.4239-40del MANE Select | ENSP00000263094.6:n.4239-40del | |
| ENST00000433129.6:n.4539-40del | ||
| ENST00000435683.7:c.1724-40del | ENSP00000465322.2:n.1724-40del | |
| ENST00000673773.1:n.42del | ||
| ENST00000263094.10:c.4239-40del | ENSP00000263094.6:n.4239-40del | |
| ENST00000433129.5:c.4239-40del | ENSP00000414062.1:n.4239-40del | |
| ENST00000435683.6:c.3825-40del | ENSP00000465322.1:n.3825-40del | |
| NM_019112.3:c.4239-40del | NP_061985.2:n.4239-40del | |
| XM_006722616.1:c.4239-40del | XP_006722679.1:n.4239-40del | |
| XM_006722617.2:c.4239-40del | XP_006722680.1:n.4239-40del | |
| XM_006722618.2:c.1896-40del | XP_006722681.1:n.1896-40del | |
| XM_011527628.1:c.4239-40del | XP_011525930.1:n.4239-40del | |
| XM_011527629.1:c.4212-40del | XP_011525931.1:n.4212-40del | |
| XM_011527630.1:c.4239-40del | XP_011525932.1:n.4239-40del | |
| XM_011527631.1:c.4239-40del | XP_011525933.1:n.4239-40del | |
| XM_011527632.1:c.3783-40del | XP_011525934.1:n.3783-40del | |
| XM_011527633.1:c.4239-40del | XP_011525935.1:n.4239-40del | |
| XM_011527634.1:c.4239-40del | XP_011525936.1:n.4239-40del | |
| XM_011527635.1:c.4239-40del | XP_011525937.1:n.4239-40del | |
| XM_011527636.1:c.1896-40del | XP_011525938.1:n.1896-40del | |
| XR_936148.1:n.4457-40del | ||
| XR_936149.1:n.4457-40del | ||
| XR_936150.1:n.4457-40del | ||
| XR_936151.1:n.4457-40del | ||
| XR_936152.1:n.4457-40del | ||
| XR_936153.1:n.4457-40del | ||
| XR_936154.1:n.4457-40del | ||
| XM_011527633.2:c.4239-40del | XP_011525935.1:n.4239-40del | |
| XM_017026143.1:c.4239-40del | XP_016881632.1:n.4239-40del | |
| XM_024451315.1:c.4239-40del | XP_024307083.1:n.4239-40del | |
| XM_024451316.1:c.4239-40del | XP_024307084.1:n.4239-40del | |
| XM_024451317.1:c.4212-40del | XP_024307085.1:n.4212-40del | |
| XM_024451318.1:c.4239-40del | XP_024307086.1:n.4239-40del | |
| XM_024451319.1:c.4239-40del | XP_024307087.1:n.4239-40del | |
| XM_024451320.1:c.3984-40del | XP_024307088.1:n.3984-40del | |
| XM_024451321.1:c.4239-40del | XP_024307089.1:n.4239-40del | |
| XM_024451322.1:c.3783-40del | XP_024307090.1:n.3783-40del | |
| XM_024451323.1:c.4239-40del | XP_024307091.1:n.4239-40del | |
| XM_024451324.1:c.1896-40del | XP_024307092.1:n.1896-40del | |
| XM_024451325.1:c.1896-40del | XP_024307093.1:n.1896-40del | |
| XR_001753585.1:n.4457-40del | ||
| XR_001753586.1:n.4457-40del | ||
| XR_002958240.1:n.4457-40del | ||
| XR_002958241.1:n.4457-40del | ||
| XR_002958242.1:n.4457-40del | ||
| NM_019112.4:c.4239-40del MANE Select | NP_061985.2:n.4239-40del |