Linked Data
ClinVar Variation Id:
265274
dbSNP Id:
rs773574448
ExAC:
7:128610257 TA / T
gnomAD v2:
7-128610257-TA-T
gnomAD v3:
7-128970203-TA-T
gnomAD v4:
7-128970203-TA-T
PubMed:
PMID:28135719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128970204del , CM000669.2:g.128970204del | GRCh38 |
| NC_000007.13:g.128610258del , CM000669.1:g.128610258del | GRCh37 |
| NC_000007.12:g.128397494del | NCBI36 |
| NG_023428.1:g.89970del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265388.10:c.2542del MANE Select | ENSP00000265388.5:p.Tyr848IlefsTer25 | |
| ENST00000265388.9:c.2542del | ENSP00000265388.5:p.Tyr848IlefsTer25 | |
| ENST00000471166.1:c.2644del | ENSP00000418267.1:p.Tyr882IlefsTer25 | |
| ENST00000471234.5:c.2350del | ENSP00000418646.1:p.Tyr784IlefsTer25 | |
| ENST00000482320.5:c.2344del | ENSP00000420089.1:p.Tyr782IlefsTer25 | |
| ENST00000627585.2:c.2644del | ENSP00000487231.1:p.Tyr882IlefsTer25 | |
| NM_001191028.2:c.2350del | NP_001177957.2:p.Tyr784IlefsTer25 | |
| NM_012470.3:c.2542del | NP_036602.1:p.Tyr848IlefsTer25 | |
| NR_034053.2:n.3106del | ||
| XM_011515989.1:c.2344del | XP_011514291.1:p.Tyr782IlefsTer25 | |
| NM_001191028.3:c.2350del | NP_001177957.2:p.Tyr784IlefsTer25 | |
| NM_001382216.1:c.2644del | NP_001369145.1:p.Tyr882IlefsTer25 | |
| NM_001382217.1:c.2623del | NP_001369146.1:p.Tyr875IlefsTer25 | |
| NM_001382218.1:c.2542del | NP_001369147.1:p.Tyr848IlefsTer25 | |
| NM_001382219.1:c.2434del | NP_001369148.1:p.Tyr812IlefsTer25 | |
| NM_001382220.1:c.2401del | NP_001369149.1:p.Tyr801IlefsTer25 | |
| NM_001382221.1:c.2398del | NP_001369150.1:p.Tyr800IlefsTer25 | |
| NM_001382222.1:c.2395del | NP_001369151.1:p.Tyr799IlefsTer25 | |
| NM_001382223.1:c.2350del | NP_001369152.1:p.Tyr784IlefsTer25 | |
| NM_012470.4:c.2542del MANE Select | NP_036602.1:p.Tyr848IlefsTer25 | |
| NR_034053.3:n.3044del | ||
| NR_167911.1:n.3131del | ||
| NR_167912.1:n.2989del | ||
| NR_167913.1:n.2791del | ||
| NR_167914.1:n.2951del | ||
| NR_167915.1:n.3207del | ||
| NR_167916.1:n.2681del | ||
| NR_167917.1:n.2714del | ||
| NR_167918.1:n.3169del | ||
| NR_167919.1:n.3008del | ||
| NR_167920.1:n.2967del | ||
| NR_167921.1:n.3169del | ||
| NR_167922.1:n.3005del | ||
| NR_167923.1:n.2806del | ||
| NR_167924.1:n.2883del | ||
| NR_167925.1:n.2806del | ||
| NR_167926.1:n.2817del | ||
| NR_167927.1:n.3110del |