Linked Data
dbSNP Id:
rs2073483768
gnomAD v3:
17-76469282-GGCCTTCATCATC-G
gnomAD v4:
17-76469282-GGCCTTCATCATC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.76469284_76469295del , CM000679.2:g.76469284_76469295del | GRCh38 |
| NC_000017.10:g.74465366_74465377del , CM000679.1:g.74465366_74465377del | GRCh37 |
| NC_000017.9:g.71976961_71976972del | NCBI36 |
| NG_015976.1:g.20934_20945del | |
| NG_032852.1:g.37134_37145del , LRG_532:g.37134_37145del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392492.8:c.275_286del MANE Select | ENSP00000376282.2:p.Ala92_Ile95del | |
| ENST00000250615.7:c.410_421del | ENSP00000250615.2:p.Ala137_Ile140del | |
| ENST00000392492.7:c.275_286del | ENSP00000376282.2:p.Ala92_Ile95del | |
| ENST00000585649.1:c.389_400del | ENSP00000468717.1:p.Ala130_Ile133del | |
| ENST00000587798.1:c.*52_*63del | ENSP00000468239.1:n.*52_*63del | |
| NM_001088.2:c.275_286del | NP_001079.1:p.Ala92_Ile95del | |
| NM_001166579.1:c.410_421del | NP_001160051.1:p.Ala137_Ile140del | |
| NR_110548.1:n.586_597del | ||
| XM_011524415.1:c.275_286del | XP_011522717.1:p.Ala92_Ile95del | |
| XM_011524416.1:c.482_493del | XP_011522718.1:p.Ala161_Ile164del | |
| XM_011524417.1:c.482_493del | XP_011522719.1:p.Ala161_Ile164del | |
| XM_011524418.1:c.482_493del | XP_011522720.1:p.Ala161_Ile164del | |
| XM_011524419.1:c.482_493del | XP_011522721.1:p.Ala161_Ile164del | |
| XM_011524420.1:c.482_493del | XP_011522722.1:p.Ala161_Ile164del | |
| XM_011524421.1:c.482_493del | XP_011522723.1:p.Ala161_Ile164del | |
| XM_011524422.1:c.365_376del | XP_011522724.1:p.Ala122_Ile125del | |
| XM_011524423.1:c.275_286del | XP_011522725.1:p.Ala92_Ile95del | |
| XM_017024259.1:c.389_400del | XP_016879748.1:p.Ala130_Ile133del | |
| NM_001088.3:c.275_286del MANE Select | NP_001079.1:p.Ala92_Ile95del | |
| NR_110548.2:n.531_542del | ||
| NM_001166579.2:c.410_421del | NP_001160051.1:p.Ala137_Ile140del |