Linked Data
ClinVar Variation Id:
40071
ClinVar RCV Id:
RCV003764653
dbSNP Id:
rs431905507
gnomAD v2:
11-103080676-GA-G
gnomAD v3:
11-103209947-GA-G
gnomAD v4:
11-103209947-GA-G
MyVariant Identifiers:
chr11:g.103080684del (hg19)
chr11:g.103080677del (hg19)
chr11:g.103209955del (hg38)
chr11:g.103209948del (hg38)
PubMed:
PMID:22499340
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.103209955del , CM000673.2:g.103209955del | GRCh38 |
| NC_000011.9:g.103080684del , CM000673.1:g.103080684del | GRCh37 |
| NC_000011.8:g.102585894del | NCBI36 |
| NG_016423.1:g.105525del | |
| NG_016423.2:g.105525del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650373.2:c.8534del MANE Plus Clinical | ENSP00000497174.1:p.Asn2845IlefsTer8 | |
| ENST00000375735.7:c.8534del MANE Select | ENSP00000364887.2:p.Asn2845IlefsTer8 | |
| ENST00000650373.1:c.8534del | ENSP00000497174.1:p.Asn2845IlefsTer8 | |
| ENST00000334267.11:c.2205+75536del | ENSP00000334021.7:n.2205+75536del | |
| ENST00000375735.6:c.8534del | ENSP00000364887.2:p.Asn2845IlefsTer8 | |
| ENST00000398093.7:c.8534del | ENSP00000381167.3:p.Asn2845IlefsTer8 | |
| ENST00000533027.1:n.134del | ||
| NM_001080463.1:c.8534del | NP_001073932.1:p.Asn2845IlefsTer8 | |
| NM_001377.2:c.8534del | NP_001368.2:p.Asn2845IlefsTer8 | |
| XM_006718903.2:c.8513del | XP_006718966.1:p.Asn2838IlefsTer8 | |
| XM_017018291.1:c.8534del | XP_016873780.1:p.Asn2845IlefsTer8 | |
| XM_017018292.1:c.7916del | XP_016873781.1:p.Asn2639IlefsTer8 | |
| NM_001377.3:c.8534del MANE Select | NP_001368.2:p.Asn2845IlefsTer8 | |
| NM_001080463.2:c.8534del MANE Plus Clinical | NP_001073932.1:p.Asn2845IlefsTer8 |