Linked Data
dbSNP Id:
rs775123142
ExAC:
1:227172239 CT / C
gnomAD v2:
1-227172239-CT-C
gnomAD v4:
1-226984538-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.226984539del , CM000663.2:g.226984539del | GRCh38 |
| NC_000001.10:g.227172240del , CM000663.1:g.227172240del | GRCh37 |
| NC_000001.9:g.225238863del | NCBI36 |
| NG_012825.1:g.49303del | |
| NG_012825.2:g.92004del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366777.4:c.1399-9del MANE Select | ENSP00000355739.3:n.1399-9del | |
| ENST00000366779.6:c.*6126-9del | ENSP00000355741.2:n.*6126-9del | |
| ENST00000366777.3:c.1399-9del | ENSP00000355739.3:n.1399-9del | |
| ENST00000366778.5:c.1243-9del | ENSP00000355740.1:n.1243-9del | |
| ENST00000366779.5:c.1399-9del | ENSP00000355741.1:n.1399-9del | |
| ENST00000478406.5:n.2261-9del | ||
| ENST00000479852.1:n.586-9del | ||
| ENST00000485462.5:n.789-9del | ||
| NM_020247.4:c.1399-9del | NP_064632.2:n.1399-9del | |
| XM_005273201.1:c.1399-9del | XP_005273258.1:n.1399-9del | |
| XM_011544238.1:c.1399-9del | XP_011542540.1:n.1399-9del | |
| XM_011544239.1:c.1399-9del | XP_011542541.1:n.1399-9del | |
| XM_011544240.1:c.1399-9del | XP_011542542.1:n.1399-9del | |
| XM_011544241.1:c.1399-9del | XP_011542543.1:n.1399-9del | |
| XM_011544239.2:c.1399-9del | XP_011542541.1:n.1399-9del | |
| XM_011544241.2:c.1399-9del | XP_011542543.1:n.1399-9del | |
| XM_017001852.1:c.1399-9del | XP_016857341.1:n.1399-9del | |
| XM_024448517.1:c.1399-9del | XP_024304285.1:n.1399-9del | |
| XM_024448518.1:c.1399-9del | XP_024304286.1:n.1399-9del | |
| NM_020247.5:c.1399-9del MANE Select | NP_064632.2:n.1399-9del |