Linked Data
dbSNP Id:
rs1801108967
gnomAD v3:
7-29388480-ACATATTTATT-A
gnomAD v4:
7-29388480-ACATATTTATT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.29388484_29388493del , CM000669.2:g.29388484_29388493del | GRCh38 |
| NC_000007.13:g.29428100_29428109del , CM000669.1:g.29428100_29428109del | GRCh37 |
| NC_000007.12:g.29394625_29394634del | NCBI36 |
| NG_029365.2:g.246938_246947del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409350.6:c.184-5195_184-5186del | ENSP00000386968.2:n.184-5195_184-5186del | |
| ENST00000439384.6:n.407-5195_407-5186del | ||
| ENST00000446446.6:c.145-5195_145-5186del | ENSP00000396867.2:n.145-5195_145-5186del | |
| ENST00000706158.1:c.*89-5195_*89-5186del | ENSP00000516236.1:n.*89-5195_*89-5186del | |
| ENST00000706159.1:c.89-9889_89-9880del | ENSP00000516237.1:n.89-9889_89-9880del | |
| ENST00000706160.1:c.145-5195_145-5186del | ENSP00000516238.1:n.145-5195_145-5186del | |
| ENST00000706161.1:c.223-5195_223-5186del | ENSP00000516239.1:n.223-5195_223-5186del | |
| ENST00000706162.1:c.145-5195_145-5186del | ENSP00000516240.1:n.145-5195_145-5186del | |
| ENST00000706163.1:c.50-91795_50-91786del | ENSP00000516241.1:n.50-91795_50-91786del | |
| ENST00000222792.11:c.145-5195_145-5186del MANE Select | ENSP00000222792.7:n.145-5195_145-5186del | |
| ENST00000644824.1:c.370-5195_370-5186del | ENSP00000495614.1:n.370-5195_370-5186del | |
| ENST00000222792.10:c.145-5195_145-5186del | ENSP00000222792.6:n.145-5195_145-5186del | |
| ENST00000409350.5:c.184-5195_184-5186del | ENSP00000386968.1:n.184-5195_184-5186del | |
| ENST00000409922.5:n.356-5195_356-5186del | ||
| ENST00000409964.6:n.344-5195_344-5186del | ||
| ENST00000412536.5:n.165-5195_165-5186del | ||
| ENST00000435288.6:c.145-5195_145-5186del | ENSP00000400282.3:n.145-5195_145-5186del | |
| ENST00000439384.5:c.370-5195_370-5186del | ENSP00000409843.1:n.370-5195_370-5186del | |
| ENST00000474070.5:c.245-5195_245-5186del | ||
| ENST00000478128.6:n.239-5195_239-5186del | ||
| ENST00000482820.6:n.354-5195_354-5186del | ||
| ENST00000495789.6:c.145-5195_145-5186del | ENSP00000438587.2:n.145-5195_145-5186del | |
| ENST00000539389.5:c.145-5195_145-5186del | ENSP00000440526.2:n.145-5195_145-5186del | |
| ENST00000539406.5:c.145-5195_145-5186del | ENSP00000444063.2:n.145-5195_145-5186del | |
| NM_001293069.1:c.370-5195_370-5186del | NP_001279998.1:n.370-5195_370-5186del | |
| NM_001293070.1:c.184-5195_184-5186del | NP_001279999.1:n.184-5195_184-5186del | |
| NM_001293071.1:c.40-5195_40-5186del | NP_001280000.1:n.40-5195_40-5186del | |
| NM_001293072.1:c.100-5195_100-5186del | NP_001280001.1:n.100-5195_100-5186del | |
| NM_004067.3:c.145-5195_145-5186del | NP_004058.1:n.145-5195_145-5186del | |
| XM_011515105.1:c.448-5195_448-5186del | XP_011513407.1:n.448-5195_448-5186del | |
| XM_011515106.1:c.409-5195_409-5186del | XP_011513408.1:n.409-5195_409-5186del | |
| XM_011515107.1:c.223-5195_223-5186del | XP_011513409.1:n.223-5195_223-5186del | |
| XM_011515108.1:c.145-5195_145-5186del | XP_011513410.1:n.145-5195_145-5186del | |
| XM_011515109.1:c.106-5195_106-5186del | XP_011513411.1:n.106-5195_106-5186del | |
| XM_011515110.1:c.67-5195_67-5186del | XP_011513412.1:n.67-5195_67-5186del | |
| XM_011515111.1:c.40-5195_40-5186del | XP_011513413.1:n.40-5195_40-5186del | |
| XM_011515112.1:c.448-5195_448-5186del | XP_011513414.1:n.448-5195_448-5186del | |
| XM_011515105.2:c.448-5195_448-5186del | XP_011513407.1:n.448-5195_448-5186del | |
| XM_011515106.2:c.409-5195_409-5186del | XP_011513408.1:n.409-5195_409-5186del | |
| XM_011515107.2:c.223-5195_223-5186del | XP_011513409.1:n.223-5195_223-5186del | |
| XM_017011721.1:c.466-5195_466-5186del | XP_016867210.1:n.466-5195_466-5186del | |
| XM_017011722.1:c.241-5195_241-5186del | XP_016867211.1:n.241-5195_241-5186del | |
| NM_004067.4:c.145-5195_145-5186del MANE Select | NP_004058.1:n.145-5195_145-5186del | |
| NM_001293070.2:c.184-5195_184-5186del | NP_001279999.1:n.184-5195_184-5186del | |
| NM_001293071.2:c.40-5195_40-5186del | NP_001280000.1:n.40-5195_40-5186del | |
| NM_001293072.2:c.100-5195_100-5186del | NP_001280001.1:n.100-5195_100-5186del | |
| NM_001398427.1:c.-294-5195_-294-5186del | NP_001385356.1:n.-294-5195_-294-5186del |