Linked Data
dbSNP Id:
rs760383946
ExAC:
18:2750333 CTTTTG / C
gnomAD v2:
18-2750333-CTTTTG-C
gnomAD v3:
18-2750335-CTTTTG-C
gnomAD v4:
18-2750335-CTTTTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.2750343_2750347del , CM000680.2:g.2750343_2750347del | GRCh38 |
| NC_000018.9:g.2750341_2750345del , CM000680.1:g.2750341_2750345del | GRCh37 |
| NC_000018.8:g.2740341_2740345del | NCBI36 |
| NG_031972.1:g.99456_99460del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000583441.2:n.1694-7_1694-3del | ||
| ENST00000686763.1:c.813-7_813-3del | ENSP00000510263.1:n.813-7_813-3del | |
| ENST00000686864.1:c.770-7_770-3del | ||
| ENST00000688342.1:c.4008-7_4008-3del | ENSP00000508422.1:n.4008-7_4008-3del | |
| ENST00000688708.1:n.2664-7_2664-3del | ||
| ENST00000690757.1:n.1465-7_1465-3del | ||
| ENST00000693213.1:n.3206-7_3206-3del | ||
| ENST00000320876.11:c.4008-7_4008-3del MANE Select | ENSP00000326603.7:n.4008-7_4008-3del | |
| ENST00000320876.10:c.4008-7_4008-3del | ENSP00000326603.6:n.4008-7_4008-3del | |
| ENST00000577880.5:c.2421-7_2421-3del | ENSP00000463049.1:n.2421-7_2421-3del | |
| ENST00000584897.5:c.1828-7_1828-3del | ||
| NM_015295.2:c.4008-7_4008-3del | NP_056110.2:n.4008-7_4008-3del | |
| XM_011525642.1:c.4008-7_4008-3del | XP_011523944.1:n.4008-7_4008-3del | |
| XM_011525643.1:c.4008-7_4008-3del | XP_011523945.1:n.4008-7_4008-3del | |
| XM_011525644.1:c.3624-7_3624-3del | XP_011523946.1:n.3624-7_3624-3del | |
| XM_011525645.1:c.3444-7_3444-3del | XP_011523947.1:n.3444-7_3444-3del | |
| XM_011525646.1:c.4008-7_4008-3del | XP_011523948.1:n.4008-7_4008-3del | |
| XM_011525647.1:c.3928-7_3928-3del | XP_011523949.1:n.3928-7_3928-3del | |
| XR_430039.1:n.4197-7_4197-3del | ||
| XR_935054.1:n.4197-7_4197-3del | ||
| XR_935055.1:n.4197-7_4197-3del | ||
| XM_011525643.2:c.4008-7_4008-3del | XP_011523945.1:n.4008-7_4008-3del | |
| XM_017025684.1:c.3444-7_3444-3del | XP_016881173.1:n.3444-7_3444-3del | |
| XR_001753172.1:n.4197-7_4197-3del | ||
| XR_001753173.1:n.4197-7_4197-3del | ||
| XR_001753174.1:n.4197-7_4197-3del | ||
| XR_001753175.1:n.4197-7_4197-3del | ||
| XR_001753176.1:n.4197-7_4197-3del | ||
| XR_001753177.1:n.4197-7_4197-3del | ||
| XR_001753178.1:n.4117-7_4117-3del | ||
| XR_001753179.1:n.4117-7_4117-3del | ||
| XR_935055.2:n.4197-7_4197-3del | ||
| NM_015295.3:c.4008-7_4008-3del MANE Select | NP_056110.2:n.4008-7_4008-3del |