Linked Data
dbSNP Id:
rs995893452
gnomAD v2:
11-116703734-G-GC
gnomAD v3:
11-116833018-G-GC
gnomAD v4:
11-116833018-G-GC
MyVariant Identifiers:
chr11:g.116703734_116703735insC (hg19)
chr11:g.116833018_116833019insC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116833024dup , CM000673.2:g.116833024dup | GRCh38 |
| NC_000011.9:g.116703740dup , CM000673.1:g.116703740dup | GRCh37 |
| NC_000011.8:g.116208950dup | NCBI36 |
| NG_008949.1:g.8117dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000227667.8:c.*140dup MANE Select | ENSP00000227667.2:n.*140dup | |
| ENST00000227667.7:c.*140dup | ENSP00000227667.2:n.*140dup | |
| ENST00000375345.3:c.*140dup | ENSP00000364494.1:n.*140dup | |
| ENST00000630701.1:c.494dup | ENSP00000486182.1:n.494dup | |
| NM_000040.1:c.*140dup | NP_000031.1:n.*140dup | |
| NM_000040.2:c.*140dup | NP_000031.1:n.*140dup | |
| NM_000040.3:c.*140dup MANE Select | NP_000031.1:n.*140dup |