Linked Data
dbSNP Id:
rs2069087348
gnomAD v3:
17-2665058-TCTATAGAGTG-T
gnomAD v4:
17-2665058-TCTATAGAGTG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.2665060_2665069del , CM000679.2:g.2665060_2665069del | GRCh38 |
| NC_000017.10:g.2568354_2568363del , CM000679.1:g.2568354_2568363del | GRCh37 |
| NC_000017.9:g.2515104_2515113del | NCBI36 |
| NG_009799.1:g.76432_76441del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397195.10:c.33-312_33-303del MANE Select | ENSP00000380378.4:n.33-312_33-303del | |
| ENST00000674608.1:c.87-312_87-303del | ENSP00000501976.1:n.87-312_87-303del | |
| ENST00000674717.1:c.-3-1932_-3-1923del | ENSP00000501931.1:n.-3-1932_-3-1923del | |
| ENST00000675202.1:c.33-312_33-303del | ENSP00000502843.1:n.33-312_33-303del | |
| ENST00000675331.1:c.33-312_33-303del | ENSP00000502031.1:n.33-312_33-303del | |
| ENST00000675390.1:c.33-312_33-303del | ENSP00000501969.1:n.33-312_33-303del | |
| ENST00000675430.1:n.260-312_260-303del | ||
| ENST00000675621.1:c.33-312_33-303del | ENSP00000502117.1:n.33-312_33-303del | |
| ENST00000675764.1:c.131-312_131-303del | ENSP00000502242.1:n.131-312_131-303del | |
| ENST00000676077.1:c.-163-312_-163-303del | ENSP00000502507.1:n.-163-312_-163-303del | |
| ENST00000676098.1:c.33-312_33-303del | ENSP00000502735.1:n.33-312_33-303del | |
| ENST00000676188.1:c.33-312_33-303del | ENSP00000502577.1:n.33-312_33-303del | |
| ENST00000676201.1:n.272-956_272-947del | ||
| ENST00000676353.1:c.-78-956_-78-947del | ENSP00000502737.1:n.-78-956_-78-947del | |
| ENST00000676456.1:n.223-956_223-947del | ||
| ENST00000397195.9:c.33-312_33-303del | ENSP00000380378.4:n.33-312_33-303del | |
| ENST00000570400.1:c.33-956_33-947del | ENSP00000460258.1:n.33-956_33-947del | |
| ENST00000572915.6:n.273-1932_273-1923del | ||
| ENST00000574816.5:n.31-11254_31-11245del | ||
| ENST00000575477.5:n.620-956_620-947del | ||
| ENST00000576586.5:c.33-312_33-303del | ENSP00000461087.1:n.33-312_33-303del | |
| NM_000430.3:c.33-312_33-303del | NP_000421.1:n.33-312_33-303del | |
| XM_011523901.1:c.87-312_87-303del | XP_011522203.1:n.87-312_87-303del | |
| XM_011523902.1:c.87-312_87-303del | XP_011522204.1:n.87-312_87-303del | |
| XM_011523903.1:c.87-312_87-303del | XP_011522205.1:n.87-312_87-303del | |
| XM_011523904.1:c.87-312_87-303del | XP_011522206.1:n.87-312_87-303del | |
| XM_011523901.2:c.87-312_87-303del | XP_011522203.1:n.87-312_87-303del | |
| XM_011523902.3:c.87-312_87-303del | XP_011522204.1:n.87-312_87-303del | |
| XM_011523903.2:c.87-312_87-303del | XP_011522205.1:n.87-312_87-303del | |
| XM_017024701.1:c.33-312_33-303del | XP_016880190.1:n.33-312_33-303del | |
| XM_017024702.2:c.-78-956_-78-947del | XP_016880191.1:n.-78-956_-78-947del | |
| NM_000430.4:c.33-312_33-303del MANE Select | NP_000421.1:n.33-312_33-303del |