Linked Data
ClinVar Variation Id:
321844
dbSNP Id:
rs574015313
gnomAD v2:
17-14111988-AC-A
gnomAD v3:
17-14208671-AC-A
gnomAD v4:
17-14208671-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.14208672del , CM000679.2:g.14208672del | GRCh38 |
| NC_000017.10:g.14111989del , CM000679.1:g.14111989del | GRCh37 |
| NC_000017.9:g.14052714del | NCBI36 |
| NG_008034.1:g.144271del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261643.8:c.*1459del MANE Select | ENSP00000261643.3:n.*1459del | |
| ENST00000664217.1:c.*174del | ENSP00000499396.1:n.*174del | |
| ENST00000670279.1:c.929-837del | ENSP00000499450.1:n.929-837del | |
| ENST00000261643.7:c.*1459del | ENSP00000261643.3:n.*1459del | |
| NM_001303.3:c.*1459del | NP_001294.2:n.*1459del | |
| XM_011523658.1:c.*1459del | XP_011521960.1:n.*1459del | |
| XR_933974.1:n.1032-837del | ||
| NM_001303.4:c.*1459del MANE Select | NP_001294.2:n.*1459del |