Linked Data
dbSNP Id:
rs11287297
gnomAD v2:
19-1391485-CT-C
gnomAD v3:
19-1391486-CT-C
gnomAD v4:
19-1391486-CT-C
MyVariant Identifiers:
chr19:g.1391489del (hg19)
chr19:g.1391486del (hg19)
chr19:g.1391490del (hg38)
chr19:g.1391487del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1391503del , CM000681.2:g.1391503del | GRCh38 |
| NC_000019.9:g.1391502del , CM000681.1:g.1391502del | GRCh37 |
| NC_000019.8:g.1342502del | NCBI36 |
| NG_008283.1:g.12620del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233627.14:c.455+338del MANE Select | ENSP00000233627.9:n.455+338del | |
| ENST00000233627.13:c.455+338del | ENSP00000233627.9:n.455+338del | |
| ENST00000313408.11:c.455+338del | ENSP00000364262.5:n.455+338del | |
| ENST00000414651.3:c.545+338del | ENSP00000406630.2:n.545+338del | |
| ENST00000436115.6:n.2410+338del | ||
| ENST00000534853.5:c.*249+338del | ENSP00000442822.1:n.*249+338del | |
| ENST00000535382.1:n.707+338del | ||
| ENST00000538523.5:n.511+338del | ||
| ENST00000538662.5:n.550+338del | ||
| ENST00000538929.5:n.545+338del | ||
| ENST00000539480.5:c.455+338del | ENSP00000443273.1:n.455+338del | |
| ENST00000540530.5:n.446+338del | ||
| ENST00000543289.5:n.1013+338del | ||
| ENST00000545446.5:n.746+338del | ||
| ENST00000546172.7:c.*451+338del | ENSP00000467094.1:n.*451+338del | |
| ENST00000546283.5:c.455+338del | ENSP00000440348.1:n.455+338del | |
| ENST00000618074.4:c.462+338del | ENSP00000477895.1:n.462+338del | |
| ENST00000620479.4:c.459+338del | ENSP00000480984.1:n.459+338del | |
| ENST00000622587.4:n.519+338del | ||
| NM_024407.4:c.455+338del | NP_077718.3:n.455+338del | |
| XM_005259556.3:c.455+338del | XP_005259613.2:n.455+338del | |
| NM_001363602.1:c.455+338del | NP_001350531.1:n.455+338del | |
| XM_024451499.1:c.476+338del | XP_024307267.1:n.476+338del | |
| NM_024407.5:c.455+338del MANE Select | NP_077718.3:n.455+338del | |
| NM_001363602.2:c.455+338del | NP_001350531.1:n.455+338del |