Linked Data
dbSNP Id:
rs140510730
gnomAD v2:
7-29438231-AG-A
gnomAD v3:
7-29398615-AG-A
gnomAD v4:
7-29398615-AG-A
COSMIC:
COSN20070077
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.29398623del , CM000669.2:g.29398623del | GRCh38 |
| NC_000007.13:g.29438239del , CM000669.1:g.29438239del | GRCh37 |
| NC_000007.12:g.29404764del | NCBI36 |
| NG_029365.2:g.257077del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409350.6:c.329+137del | ENSP00000386968.2:n.329+137del | |
| ENST00000439384.6:n.552+137del | ||
| ENST00000446446.6:c.290+137del | ENSP00000396867.2:n.290+137del | |
| ENST00000706158.1:c.*234+137del | ENSP00000516236.1:n.*234+137del | |
| ENST00000706159.1:c.202+137del | ENSP00000516237.1:n.202+137del | |
| ENST00000706160.1:c.290+137del | ENSP00000516238.1:n.290+137del | |
| ENST00000706161.1:c.368+137del | ENSP00000516239.1:n.368+137del | |
| ENST00000706162.1:c.290+137del | ENSP00000516240.1:n.290+137del | |
| ENST00000706163.1:c.50-81656del | ENSP00000516241.1:n.50-81656del | |
| ENST00000222792.11:c.290+137del MANE Select | ENSP00000222792.7:n.290+137del | |
| ENST00000644824.1:c.515+137del | ENSP00000495614.1:n.515+137del | |
| ENST00000222792.10:c.290+137del | ENSP00000222792.6:n.290+137del | |
| ENST00000409350.5:c.329+137del | ENSP00000386968.1:n.329+137del | |
| ENST00000409922.5:n.501+137del | ||
| ENST00000409964.6:n.489+137del | ||
| ENST00000412536.5:n.310+137del | ||
| ENST00000435288.6:c.168+4921del | ENSP00000400282.3:n.168+4921del | |
| ENST00000439384.5:c.515+137del | ENSP00000409843.1:n.515+137del | |
| ENST00000474070.5:c.390+137del | ||
| ENST00000478128.6:n.384+137del | ||
| ENST00000491856.1:n.1839+137del | ||
| ENST00000495789.6:c.290+137del | ENSP00000438587.2:n.290+137del | |
| ENST00000539389.5:c.290+137del | ENSP00000440526.2:n.290+137del | |
| ENST00000539406.5:c.290+137del | ENSP00000444063.2:n.290+137del | |
| NM_001293069.1:c.515+137del | NP_001279998.1:n.515+137del | |
| NM_001293070.1:c.329+137del | NP_001279999.1:n.329+137del | |
| NM_001293071.1:c.185+137del | NP_001280000.1:n.185+137del | |
| NM_001293072.1:c.245+137del | NP_001280001.1:n.245+137del | |
| NM_004067.3:c.290+137del | NP_004058.1:n.290+137del | |
| XM_011515105.1:c.593+137del | XP_011513407.1:n.593+137del | |
| XM_011515106.1:c.554+137del | XP_011513408.1:n.554+137del | |
| XM_011515107.1:c.368+137del | XP_011513409.1:n.368+137del | |
| XM_011515108.1:c.290+137del | XP_011513410.1:n.290+137del | |
| XM_011515109.1:c.251+137del | XP_011513411.1:n.251+137del | |
| XM_011515110.1:c.212+137del | XP_011513412.1:n.212+137del | |
| XM_011515111.1:c.185+137del | XP_011513413.1:n.185+137del | |
| XM_011515112.1:c.593+137del | XP_011513414.1:n.593+137del | |
| XM_011515105.2:c.593+137del | XP_011513407.1:n.593+137del | |
| XM_011515106.2:c.554+137del | XP_011513408.1:n.554+137del | |
| XM_011515107.2:c.368+137del | XP_011513409.1:n.368+137del | |
| XM_017011721.1:c.611+137del | XP_016867210.1:n.611+137del | |
| XM_017011722.1:c.386+137del | XP_016867211.1:n.386+137del | |
| NM_004067.4:c.290+137del MANE Select | NP_004058.1:n.290+137del | |
| NM_001293070.2:c.329+137del | NP_001279999.1:n.329+137del | |
| NM_001293071.2:c.185+137del | NP_001280000.1:n.185+137del | |
| NM_001293072.2:c.245+137del | NP_001280001.1:n.245+137del | |
| NM_001398427.1:c.-149+137del | NP_001385356.1:n.-149+137del |