Linked Data
dbSNP Id:
rs1565692174
gnomAD v2:
11-118900100-AC-A
gnomAD v4:
11-119029390-AC-A
MyVariant Identifiers:
chr11:g.118900101del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119029392del , CM000673.2:g.119029392del | GRCh38 |
| NC_000011.9:g.118900102del , CM000673.1:g.118900102del | GRCh37 |
| NC_000011.8:g.118405312del | NCBI36 |
| NG_013331.1:g.6516del , LRG_187:g.6516del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000529510.6:n.208del | ||
| ENST00000697846.1:n.208del | ||
| ENST00000697847.1:n.208del | ||
| ENST00000697848.1:n.208del | ||
| ENST00000697849.1:n.452del | ||
| ENST00000697850.1:n.208del | ||
| ENST00000697851.1:n.452del | ||
| ENST00000638186.1:n.282del | ||
| ENST00000638360.1:n.216del | ||
| ENST00000638925.1:n.215del | ||
| ENST00000650539.1:n.384del | ||
| ENST00000330775.9:c.-22del | ENSP00000476242.2:n.-22del | |
| ENST00000357590.9:c.-22del | ENSP00000476176.2:n.-22del | |
| ENST00000525039.5:n.402del | ||
| ENST00000525102.5:n.736del | ||
| ENST00000525787.1:n.274del | ||
| ENST00000526626.6:n.174del | ||
| ENST00000527992.5:n.206del | ||
| ENST00000530407.5:n.197+1del | ||
| ENST00000532085.1:n.1473del | ||
| ENST00000532888.6:n.174del | ||
| ENST00000534384.1:n.199del | ||
| ENST00000538950.5:c.-172+1del | ||
| ENST00000545985.5:c.-22del | ENSP00000475241.2:n.-22del | |
| NM_001164277.1:c.-22del , LRG_187t1:c.-22del | NP_001157749.1:n.-22del | |
| NM_001164278.1:c.-22del | NP_001157750.1:n.-22del | |
| NM_001164279.1:c.-172+1del | ||
| NM_001164280.1:c.-22del | NP_001157752.1:n.-22del | |
| NM_001467.5:c.-22del | NP_001458.1:n.-22del | |
| NM_001164278.2:c.-22del | NP_001157750.1:n.-22del | |
| NM_001164279.2:c.-172+1del | ||
| NM_001164280.2:c.-22del | NP_001157752.1:n.-22del | |
| NM_001467.6:c.-22del | NP_001458.1:n.-22del | |
| NM_001164277.2:c.-22del MANE Select | NP_001157749.1:n.-22del |