Linked Data
ClinVar Variation Id:
199053
dbSNP Id:
rs780539887
ExAC:
11:102991766 GT / G
gnomAD v2:
11-102991766-GT-G
gnomAD v3:
11-103121037-GT-G
gnomAD v4:
11-103121037-GT-G
MyVariant Identifiers:
chr11:g.102991767del (hg19)
chr11:g.102991767delT (hg19)
chr11:g.103121038del (hg38)
PubMed:
PMID:29068549
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.103121038del , CM000673.2:g.103121038del | GRCh38 |
| NC_000011.9:g.102991767del , CM000673.1:g.102991767del | GRCh37 |
| NC_000011.8:g.102496977del | NCBI36 |
| NG_016423.1:g.16608del | |
| NG_016423.2:g.16608del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650373.2:c.1360+2del MANE Plus Clinical | ENSP00000497174.1:n.1360+2del | |
| ENST00000375735.7:c.1360+2del MANE Select | ENSP00000364887.2:n.1360+2del | |
| ENST00000648198.1:c.1360+2del | ENSP00000497329.1:n.1360+2del | |
| ENST00000649323.1:c.1360+2del | ENSP00000497581.1:n.1360+2del | |
| ENST00000650373.1:c.1360+2del | ENSP00000497174.1:n.1360+2del | |
| ENST00000334267.11:c.1360+2del | ENSP00000334021.7:n.1360+2del | |
| ENST00000375735.6:c.1360+2del | ENSP00000364887.2:n.1360+2del | |
| ENST00000398093.7:c.1360+2del | ENSP00000381167.3:n.1360+2del | |
| NM_001080463.1:c.1360+2del | NP_001073932.1:n.1360+2del | |
| NM_001377.2:c.1360+2del | NP_001368.2:n.1360+2del | |
| XM_006718903.2:c.1360+2del | XP_006718966.1:n.1360+2del | |
| XM_017018291.1:c.1360+2del | XP_016873780.1:n.1360+2del | |
| XM_017018292.1:c.742+2del | XP_016873781.1:n.742+2del | |
| XM_017018293.1:c.1360+2del | XP_016873782.1:n.1360+2del | |
| NM_001377.3:c.1360+2del MANE Select | NP_001368.2:n.1360+2del | |
| NM_001080463.2:c.1360+2del MANE Plus Clinical | NP_001073932.1:n.1360+2del |