Linked Data
ClinVar Variation Id:
6930
ClinVar RCV Id:
RCV000007342
dbSNP Id:
rs121908977
gnomAD v4:
11-119027012-ACAC-A
MyVariant Identifiers:
chr11:g.118897726_118897728del (hg19)
chr11:g.118897723_118897725del (hg19)
chr11:g.119027016_119027018del (hg38)
chr11:g.119027013_119027015del (hg38)
PubMed:
PMID:10482875
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119027016_119027018del , CM000673.2:g.119027016_119027018del | GRCh38 |
| NC_000011.9:g.118897726_118897728del , CM000673.1:g.118897726_118897728del | GRCh37 |
| NC_000011.8:g.118402936_118402938del | NCBI36 |
| NG_013331.1:g.8891_8893del , LRG_187:g.8891_8893del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000529510.6:n.936_938del | ||
| ENST00000697845.1:n.860_862del | ||
| ENST00000697846.1:n.936_938del | ||
| ENST00000697847.1:n.936_938del | ||
| ENST00000697848.1:n.936_938del | ||
| ENST00000697849.1:n.1975_1977del | ||
| ENST00000697850.1:n.936_938del | ||
| ENST00000697851.1:n.2296_2298del | ||
| ENST00000638186.1:n.1010_1012del | ||
| ENST00000638360.1:n.842_844del | ||
| ENST00000638925.1:n.943_945del | ||
| ENST00000650539.1:n.1112_1114del | ||
| ENST00000330775.9:c.706_708del | ENSP00000476242.2:p.Val236del | |
| ENST00000357590.9:c.706_708del | ENSP00000476176.2:p.Val236del | |
| ENST00000524428.5:n.1028_1030del | ||
| ENST00000525039.5:n.1130_1132del | ||
| ENST00000525102.5:n.1464_1466del | ||
| ENST00000525372.5:n.707_709del | ||
| ENST00000526275.5:n.1488_1490del | ||
| ENST00000526626.6:n.669_671del | ||
| ENST00000527992.5:n.934_936del | ||
| ENST00000529510.5:n.480_482del | ||
| ENST00000530407.5:n.856_858del | ||
| ENST00000532085.1:n.3317_3319del | ||
| ENST00000532888.6:n.1002_1004del | ||
| ENST00000538950.5:c.487_489del | ENSP00000475991.2:p.Val163del | |
| ENST00000545985.5:c.706_708del | ENSP00000475241.2:p.Val236del | |
| NM_001164277.1:c.706_708del , LRG_187t1:c.706_708del | NP_001157749.1:p.Val236del | |
| NM_001164278.1:c.706_708del | NP_001157750.1:p.Val236del | |
| NM_001164279.1:c.487_489del | NP_001157751.1:p.Val163del | |
| NM_001164280.1:c.706_708del | NP_001157752.1:p.Val236del | |
| NM_001467.5:c.706_708del | NP_001458.1:p.Val236del | |
| NM_001164278.2:c.706_708del | NP_001157750.1:p.Val236del | |
| NM_001164279.2:c.487_489del | NP_001157751.1:p.Val163del | |
| NM_001164280.2:c.706_708del | NP_001157752.1:p.Val236del | |
| NM_001467.6:c.706_708del | NP_001458.1:p.Val236del | |
| NM_001164277.2:c.706_708del MANE Select | NP_001157749.1:p.Val236del |