Linked Data
dbSNP Id:
rs756706636
ExAC:
11:119077154 TG / T
gnomAD v2:
11-119077154-TG-T
gnomAD v4:
11-119206444-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119206448del , CM000673.2:g.119206448del | GRCh38 |
| NC_000011.9:g.119077158del , CM000673.1:g.119077158del | GRCh37 |
| NC_000011.8:g.118582368del | NCBI36 |
| NG_016808.1:g.5169del , LRG_608:g.5169del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700472.1:c.31del | ENSP00000515005.1:p.Ala11ProfsTer15 | |
| ENST00000264033.6:c.31del MANE Select | ENSP00000264033.3:p.Ala11ProfsTer15 | |
| ENST00000637974.1:c.25del | ENSP00000490763.1:p.Ala9ProfsTer15 | |
| ENST00000264033.5:c.31del | ENSP00000264033.3:p.Ala11ProfsTer15 | |
| ENST00000634586.1:c.31del | ENSP00000489218.1:p.Ala11ProfsTer15 | |
| ENST00000634840.1:c.31del | ENSP00000489324.1:p.Ala11ProfsTer15 | |
| NM_005188.3:c.31del , LRG_608t1:c.31del | NP_005179.2:p.Ala11ProfsTer15 | |
| XM_011543057.1:c.31del | XP_011541359.1:p.Ala11ProfsTer15 | |
| NM_005188.4:c.31del MANE Select | NP_005179.2:p.Ala11ProfsTer15 |