Linked Data
dbSNP Id:
rs777054757
ExAC:
6:31937504 AAAAACATG / A
gnomAD v3:
6-31969727-AAAAACATG-A
gnomAD v4:
6-31969727-AAAAACATG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31969729_31969736del , CM000668.2:g.31969729_31969736del | GRCh38 |
| NC_000006.11:g.31937506_31937513del , CM000668.1:g.31937506_31937513del | GRCh37 |
| NC_000006.10:g.32045485_32045492del | NCBI36 |
| NG_032652.1:g.15926_15933del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461073.6:c.*2803_*2810del | ENSP00000419905.1:n.*2803_*2810del | |
| ENST00000494058.6:n.4057_4064del | ||
| ENST00000697831.1:c.*14_*21del | ENSP00000513453.1:n.*14_*21del | |
| ENST00000697832.1:n.3908_3915del | ||
| ENST00000697835.1:c.*3273_*3280del | ENSP00000513455.1:n.*3273_*3280del | |
| ENST00000697837.1:c.*871_*878del | ENSP00000513456.1:n.*871_*878del | |
| ENST00000697838.1:c.*14_*21del | ENSP00000513457.1:n.*14_*21del | |
| ENST00000697840.1:c.*14_*21del | ENSP00000513458.1:n.*14_*21del | |
| ENST00000697842.1:n.4010_4017del | ||
| ENST00000375394.7:c.*14_*21del MANE Select | ENSP00000364543.2:n.*14_*21del | |
| ENST00000375394.6:c.*14_*21del | ENSP00000364543.2:n.*14_*21del | |
| ENST00000465703.5:n.4485_4492del | ||
| ENST00000471818.1:n.684_691del | ||
| ENST00000474839.5:c.*3127_*3134del | ENSP00000420470.1:n.*3127_*3134del | |
| ENST00000483553.5:c.1285_1292del | ||
| ENST00000491994.1:c.844_851del | ||
| NM_006929.4:c.*14_*21del | NP_008860.4:n.*14_*21del | |
| XR_926301.3:n.3771_3778del | ||
| NM_006929.5:c.*14_*21del MANE Select | NP_008860.4:n.*14_*21del |