Linked Data
ClinVar Variation Id:
954138
ClinVar RCV Id:
RCV001226539
dbSNP Id:
rs1948519774
COSMIC:
COSM318374
MyVariant Identifiers:
chr13:g.48954190del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48380055del , CM000675.2:g.48380055del | GRCh38 |
| NC_000013.10:g.48954191del , CM000675.1:g.48954191del | GRCh37 |
| NC_000013.9:g.47852192del | NCBI36 |
| NG_009009.1:g.81309del , LRG_517:g.81309del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.1392del MANE Select | ENSP00000267163.4:p.Glu465LysfsTer13 | |
| ENST00000650461.1:c.1392del | ENSP00000497193.1:p.Glu465LysfsTer13 | |
| ENST00000267163.4:c.1392del | ENSP00000267163.4:p.Glu465LysfsTer13 | |
| NM_000321.2:c.1392del , LRG_517t1:c.1392del | NP_000312.2:p.Glu465LysfsTer13 | |
| XM_011535171.1:c.1131del | XP_011533473.1:p.Glu378LysfsTer13 | |
| XM_011535171.2:c.1131del | XP_011533473.1:p.Glu378LysfsTer13 | |
| NM_000321.3:c.1392del MANE Select | NP_000312.2:p.Glu465LysfsTer13 |