Linked Data
dbSNP Id:
rs1753985794
gnomAD v3:
5-159316141-A-AAATAAGAAGAG
gnomAD v4:
5-159316141-A-AAATAAGAAGAG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159316142_159316143insATAAGAAGAGA , CM000667.2:g.159316142_159316143insATAAGAAGAGA | GRCh38 |
| NC_000005.9:g.158743150_158743151insATAAGAAGAGA , CM000667.1:g.158743150_158743151insATAAGAAGAGA | GRCh37 |
| NC_000005.8:g.158675728_158675729insATAAGAAGAGA | NCBI36 |
| NG_009618.1:g.19332_19333insCTCTTCTTATT , LRG_71:g.19332_19333insCTCTTCTTATT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696750.1:c.*1-42_*1-41insCTCTTCTTATT | ENSP00000512849.1:n.*1-42_*1-41insCTCTTCT... | |
| ENST00000696751.1:c.*483-42_*483-41insCTCTTCTTATT | ENSP00000512850.1:n.*483-42_*483-41insCTC... | |
| ENST00000231228.3:c.*1-42_*1-41insCTCTTCTTATT MANE Select | ENSP00000231228.2:n.*1-42_*1-41insCTCTTCT... | |
| ENST00000231228.2:c.*1-42_*1-41insCTCTTCTTATT | ENSP00000231228.2:n.*1-42_*1-41insCTCTTCT... | |
| NM_002187.2:c.*1-42_*1-41insCTCTTCTTATT , LRG_71t1:c.*1-42_*1-41insCTCTTCTTATT | NP_002178.2:n.*1-42_*1-41insCTCTTCTTATT | |
| NM_002187.3:c.*1-42_*1-41insCTCTTCTTATT MANE Select | NP_002178.2:n.*1-42_*1-41insCTCTTCTTATT |