Linked Data
dbSNP Id:
rs1687872247
gnomAD v3:
2-186633483-ATACAAT-A
gnomAD v4:
2-186633483-ATACAAT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.186633486_186633491del , CM000664.2:g.186633486_186633491del | GRCh38 |
| NC_000002.11:g.187498213_187498218del , CM000664.1:g.187498213_187498218del | GRCh37 |
| NC_000002.10:g.187206458_187206463del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696906.1:c.631+112_631+117del | ENSP00000512967.1:n.631+112_631+117del | |
| ENST00000696907.1:c.454+112_454+117del | ENSP00000512968.1:n.454+112_454+117del | |
| ENST00000696908.1:c.*41+112_*41+117del | ENSP00000512969.1:n.*41+112_*41+117del | |
| ENST00000696909.1:c.454+112_454+117del | ENSP00000512970.1:n.454+112_454+117del | |
| ENST00000696910.1:c.631+112_631+117del | ENSP00000512971.1:n.631+112_631+117del | |
| ENST00000696911.1:c.631+112_631+117del | ENSP00000512972.1:n.631+112_631+117del | |
| ENST00000696912.1:c.631+112_631+117del | ENSP00000512973.1:n.631+112_631+117del | |
| ENST00000696913.1:c.631+112_631+117del | ENSP00000512974.1:n.631+112_631+117del | |
| ENST00000696914.1:c.*183+112_*183+117del | ENSP00000512975.1:n.*183+112_*183+117del | |
| ENST00000696917.1:n.1140+112_1140+117del | ||
| ENST00000696936.1:n.901+112_901+117del | ||
| ENST00000696937.1:c.631+112_631+117del | ENSP00000512982.1:n.631+112_631+117del | |
| ENST00000261023.8:c.631+112_631+117del MANE Select | ENSP00000261023.3:n.631+112_631+117del | |
| ENST00000261023.7:c.631+112_631+117del | ENSP00000261023.3:n.631+112_631+117del | |
| ENST00000374907.7:c.524-2596_524-2591del | ENSP00000364042.3:n.524-2596_524-2591del | |
| ENST00000433736.6:c.493+112_493+117del | ENSP00000404291.2:n.493+112_493+117del | |
| NM_001144999.2:c.493+112_493+117del | NP_001138471.1:n.493+112_493+117del | |
| NM_001145000.2:c.524-2596_524-2591del | NP_001138472.1:n.524-2596_524-2591del | |
| NM_002210.4:c.631+112_631+117del | NP_002201.1:n.631+112_631+117del | |
| XM_006712513.2:c.190+112_190+117del | XP_006712576.1:n.190+112_190+117del | |
| NM_002210.5:c.631+112_631+117del MANE Select | NP_002201.2:n.631+112_631+117del | |
| NM_001145000.3:c.524-2596_524-2591del | NP_001138472.2:n.524-2596_524-2591del | |
| NM_001144999.3:c.493+112_493+117del | NP_001138471.2:n.493+112_493+117del |