Linked Data
ClinVar Variation Id:
2498526
ClinVar RCV Id:
RCV003222735
dbSNP Id:
rs777148718
ExAC:
11:68703863 GC / G
gnomAD v2:
11-68703863-GC-G
gnomAD v3:
11-68936395-GC-G
gnomAD v4:
11-68936395-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68936397del , CM000673.2:g.68936397del | GRCh38 |
| NC_000011.9:g.68703865del , CM000673.1:g.68703865del | GRCh37 |
| NC_000011.8:g.68460441del | NCBI36 |
| NG_007976.1:g.37547del , LRG_250:g.37547del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1917del MANE Select | ENSP00000255078.4:p.Phe640LeufsTer? | |
| ENST00000674675.1:c.161del | ||
| ENST00000674878.1:c.161del | ||
| ENST00000674955.1:c.*634del | ENSP00000502463.1:n.*634del | |
| ENST00000675118.1:c.1405del | ||
| ENST00000675389.1:n.192del | ||
| ENST00000675615.1:c.1917del | ENSP00000502413.1:p.Phe640LeufsTer? | |
| ENST00000675648.1:n.1292del | ||
| ENST00000675916.1:c.161del | ||
| ENST00000676173.1:n.2662del | ||
| ENST00000676182.1:c.348del | ||
| ENST00000676228.1:c.*1240del | ENSP00000502375.1:n.*1240del | |
| ENST00000255078.7:c.1917del | ENSP00000255078.3:p.Phe640LeufsTer? | |
| ENST00000539064.5:n.1676del | ||
| ENST00000543739.5:n.910del | ||
| ENST00000545475.1:n.513del | ||
| NM_002180.2:c.1917del , LRG_250t1:c.1917del | NP_002171.2:p.Phe640LeufsTer? | |
| XM_005273974.2:c.906del | XP_005274031.1:p.Phe303LeufsTer? | |
| XM_005273975.2:c.789del | XP_005274032.1:p.Phe264LeufsTer? | |
| XM_011544994.1:c.684del | XP_011543296.1:p.Phe229LeufsTer? | |
| XR_949903.1:n.2019del | ||
| XM_005273975.3:c.789del | XP_005274032.1:p.Phe264LeufsTer? | |
| XM_017017669.2:c.906del | XP_016873158.1:p.Phe303LeufsTer? | |
| XM_017017670.2:c.906del | XP_016873159.1:p.Phe303LeufsTer? | |
| XR_949903.3:n.2015del | ||
| NM_002180.3:c.1917del MANE Select | NP_002171.2:p.Phe640LeufsTer? |