Linked Data
dbSNP Id:
rs759479779
ExAC:
6:31937509 CATG / C
gnomAD v2:
6-31937509-CATG-C
gnomAD v4:
6-31969732-CATG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31969738_31969740del , CM000668.2:g.31969738_31969740del | GRCh38 |
| NC_000006.11:g.31937515_31937517del , CM000668.1:g.31937515_31937517del | GRCh37 |
| NC_000006.10:g.32045494_32045496del | NCBI36 |
| NG_032652.1:g.15935_15937del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461073.6:c.*2812_*2814del | ENSP00000419905.1:n.*2812_*2814del | |
| ENST00000697831.1:c.*23_*25del | ENSP00000513453.1:n.*23_*25del | |
| ENST00000697835.1:c.*3282_*3284del | ENSP00000513455.1:n.*3282_*3284del | |
| ENST00000697838.1:c.*23_*25del | ENSP00000513457.1:n.*23_*25del | |
| ENST00000375394.7:c.*23_*25del MANE Select | ENSP00000364543.2:n.*23_*25del | |
| ENST00000375394.6:c.*23_*25del | ENSP00000364543.2:n.*23_*25del | |
| ENST00000465703.5:n.4494_4496del | ||
| ENST00000471818.1:n.693_695del | ||
| ENST00000474839.5:c.*3136_*3138del | ENSP00000420470.1:n.*3136_*3138del | |
| ENST00000483553.5:c.1294_1296del | ||
| ENST00000491994.1:c.853_855del | ||
| NM_006929.4:c.*23_*25del | NP_008860.4:n.*23_*25del | |
| XR_926301.3:n.3780_3782del | ||
| NM_006929.5:c.*23_*25del MANE Select | NP_008860.4:n.*23_*25del |