Linked Data
dbSNP Id:
rs1392422617
gnomAD v2:
15-34520613-TTC-T
gnomAD v3:
15-34228412-TTC-T
gnomAD v4:
15-34228412-TTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34228414_34228415del , CM000677.2:g.34228414_34228415del | GRCh38 |
| NC_000015.9:g.34520615_34520616del , CM000677.1:g.34520615_34520616del | GRCh37 |
| NC_000015.8:g.32307907_32307908del | NCBI36 |
| NG_007951.1:g.114651_114652del , LRG_270:g.114651_114652del | |
| NG_054746.1:g.8418_8419del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000267750.9:c.356-15_356-14del MANE Select | ENSP00000267750.4:n.356-15_356-14del | |
| ENST00000249209.8:c.355+568_355+569del | ENSP00000249209.4:n.355+568_355+569del | |
| ENST00000267750.8:c.356-15_356-14del | ENSP00000267750.4:n.356-15_356-14del | |
| ENST00000557879.1:c.*286_*287del | ENSP00000473881.1:n.*286_*287del | |
| ENST00000558102.1:c.*108+568_*108+569del | ENSP00000453880.1:n.*108+568_*108+569del | |
| ENST00000558205.5:c.*109-15_*109-14del | ENSP00000454042.1:n.*109-15_*109-14del | |
| ENST00000559078.5:c.304-552_304-551del | ENSP00000454052.1:n.304-552_304-551del | |
| ENST00000559421.1:c.202-1339_202-1338del | ENSP00000452672.1:n.202-1339_202-1338del | |
| ENST00000560911.5:c.*109-15_*109-14del | ENSP00000453610.1:n.*109-15_*109-14del | |
| ENST00000560947.1:c.153-23_153-22del | ||
| ENST00000561246.1:n.1313+590_1313+591del | ||
| NM_001286420.1:c.355+568_355+569del | NP_001273349.1:n.355+568_355+569del | |
| NM_016454.3:c.356-15_356-14del | NP_057538.1:n.356-15_356-14del | |
| NM_001351373.1:c.113-15_113-14del | NP_001338302.1:n.113-15_113-14del | |
| NR_147140.1:n.481+568_481+569del | ||
| NM_016454.4:c.356-15_356-14del MANE Select | NP_057538.1:n.356-15_356-14del | |
| NM_001286420.2:c.355+568_355+569del | NP_001273349.1:n.355+568_355+569del | |
| NM_001351373.2:c.113-15_113-14del | NP_001338302.1:n.113-15_113-14del | |
| NR_147140.2:n.462+568_462+569del |