Linked Data
dbSNP Id:
rs1233080011
gnomAD v2:
10-104846154-TTAAA-T
gnomAD v3:
10-103086397-TTAAA-T
gnomAD v4:
10-103086397-TTAAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.103086400_103086403del , CM000672.2:g.103086400_103086403del | GRCh38 |
| NC_000010.10:g.104846157_104846160del , CM000672.1:g.104846157_104846160del | GRCh37 |
| NC_000010.9:g.104836147_104836150del | NCBI36 |
| NG_042272.1:g.111906_111909del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369878.9:c.*9220_*9223del MANE Select | ENSP00000358894.3:n.*9220_*9223del | |
| ENST00000369878.8:c.*9220_*9223del | ENSP00000358894.3:n.*9220_*9223del | |
| XR_001747118.1:n.12101_12104del | ||
| XR_001747121.1:n.12065_12068del | ||
| NM_017649.5:c.*9220_*9223del MANE Select | NP_060119.3:n.*9220_*9223del | |
| NM_199076.3:c.*9220_*9223del | NP_951058.1:n.*9220_*9223del |