Linked Data
ClinVar Variation Id:
188834
dbSNP Id:
rs786204501
ExAC:
17:3543515 GCTGA / G
gnomAD v2:
17-3543515-GCTGA-G
gnomAD v3:
17-3640221-GCTGA-G
gnomAD v4:
17-3640221-GCTGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.3640224_3640227del , CM000679.2:g.3640224_3640227del | GRCh38 |
| NC_000017.10:g.3543518_3543521del , CM000679.1:g.3543518_3543521del | GRCh37 |
| NC_000017.9:g.3490267_3490270del | NCBI36 |
| NG_012489.1:g.8757_8760del | |
| NG_052852.1:g.1098_1101del | |
| NG_012489.2:g.8757_8760del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000046640.9:c.18_21del MANE Select | ENSP00000046640.4:p.Thr7PhefsTer7 | |
| ENST00000381870.8:c.18_21del | ENSP00000371294.3:p.Thr7PhefsTer7 | |
| ENST00000399306.7:c.18_21del | ENSP00000382245.2:p.Thr7PhefsTer7 | |
| ENST00000488623.6:c.-667+2908_-667+2911del | ENSP00000501016.1:n.-667+2908_-667+2911de... | |
| ENST00000574776.6:c.-156_-153del | ENSP00000461118.2:n.-156_-153del | |
| ENST00000673669.1:c.-296+2908_-296+2911del | ENSP00000501123.1:n.-296+2908_-296+2911de... | |
| ENST00000673965.1:c.18_21del | ENSP00000500995.1:p.Thr7PhefsTer7 | |
| ENST00000046640.7:c.18_21del | ENSP00000046640.3:p.Thr7PhefsTer7 | |
| ENST00000381870.7:c.18_21del | ENSP00000371294.3:p.Thr7PhefsTer7 | |
| ENST00000399306.6:c.18_21del | ENSP00000382245.2:p.Thr7PhefsTer7 | |
| ENST00000452111.5:c.18_21del | ENSP00000408652.1:p.Thr7PhefsTer7 | |
| ENST00000467663.5:c.18_21del | ENSP00000461056.1:p.Thr7PhefsTer7 | |
| ENST00000488623.5:n.282+2908_282+2911del | ||
| ENST00000495445.5:n.332_335del | ||
| ENST00000574218.1:c.-217+2908_-217+2911del | ENSP00000458912.1:n.-217+2908_-217+2911de... | |
| ENST00000574776.5:c.-156_-153del | ENSP00000461118.1:n.-156_-153del | |
| ENST00000576979.1:c.18_21del | ENSP00000458457.1:p.Thr7PhefsTer7 | |
| NM_001031681.2:c.18_21del | NP_001026851.2:p.Thr7PhefsTer7 | |
| NM_004937.2:c.18_21del | NP_004928.2:p.Thr7PhefsTer7 | |
| XM_005256485.1:c.18_21del | XP_005256542.1:p.Thr7PhefsTer7 | |
| XM_006721463.1:c.18_21del | XP_006721526.1:p.Thr7PhefsTer7 | |
| XM_006721464.1:c.-339_-336del | XP_006721527.1:n.-339_-336del | |
| XM_011523691.1:c.18_21del | XP_011521993.1:p.Thr7PhefsTer7 | |
| XM_011523692.1:c.-381+2908_-381+2911del | XP_011521994.1:n.-381+2908_-381+2911del | |
| XR_934003.1:n.611_614del | ||
| XM_005256485.3:c.18_21del | XP_005256542.1:p.Thr7PhefsTer7 | |
| XM_006721463.3:c.18_21del | XP_006721526.1:p.Thr7PhefsTer7 | |
| XM_006721464.2:c.-339_-336del | XP_006721527.1:n.-339_-336del | |
| XM_011523691.2:c.18_21del | XP_011521993.1:p.Thr7PhefsTer7 | |
| XM_011523692.2:c.-381+2908_-381+2911del | XP_011521994.1:n.-381+2908_-381+2911del | |
| XM_017024254.1:c.-260_-257del | XP_016879743.1:n.-260_-257del | |
| XM_017024255.1:c.-339_-336del | XP_016879744.1:n.-339_-336del | |
| XM_017024256.1:c.-381+2908_-381+2911del | XP_016879745.1:n.-381+2908_-381+2911del | |
| XM_017024257.1:c.-260_-257del | XP_016879746.1:n.-260_-257del | |
| XM_017024258.1:c.-296+2908_-296+2911del | XP_016879747.1:n.-296+2908_-296+2911del | |
| XR_001752758.1:n.668-1140_668-1137del | ||
| XR_001752759.1:n.540-1140_540-1137del | ||
| XR_001752760.1:n.668-1268_668-1265del | ||
| XR_001752761.2:n.453-1140_453-1137del | ||
| XR_002958115.1:n.355-1140_355-1137del | ||
| NM_001374492.1:c.18_21del | NP_001361421.1:p.Thr7PhefsTer7 | |
| NM_001374493.1:c.-339_-336del | NP_001361422.1:n.-339_-336del | |
| NM_001374494.1:c.-381+2908_-381+2911del | NP_001361423.1:n.-381+2908_-381+2911del | |
| NM_001374495.1:c.-260_-257del | NP_001361424.1:n.-260_-257del | |
| NM_001374496.1:c.-296+2908_-296+2911del | NP_001361425.1:n.-296+2908_-296+2911del | |
| NM_004937.3:c.18_21del MANE Select | NP_004928.2:p.Thr7PhefsTer7 | |
| NM_001031681.3:c.18_21del | NP_001026851.2:p.Thr7PhefsTer7 |