Linked Data
ClinVar Variation Id:
90383
ClinVar RCV Id:
RCV000075876
dbSNP Id:
rs267607801
PubMed:
PMID:15365995
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.37017523_37017526del , CM000665.2:g.37017523_37017526del | GRCh38 |
| NC_000003.11:g.37059014_37059017del , CM000665.1:g.37059014_37059017del | GRCh37 |
| NC_000003.10:g.37034018_37034021del | NCBI36 |
| NG_007109.2:g.29174_29177del , LRG_216:g.29174_29177del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000413740.2:c.808_811del | ENSP00000416476.2:p.Thr270ProfsTer2 | |
| ENST00000429117.6:c.514_517del | ENSP00000407019.2:p.Thr172ProfsTer2 | |
| ENST00000450420.6:c.808_811del | ENSP00000393006.2:p.Thr270ProfsTer2 | |
| ENST00000456676.7:c.808_811del | ENSP00000416687.3:p.Thr270ProfsTer2 | |
| ENST00000458009.6:c.808_811del | ENSP00000411066.2:p.Thr270ProfsTer2 | |
| ENST00000492474.6:c.85_88del | ENSP00000518393.1:p.Thr29ProfsTer2 | |
| ENST00000616768.6:c.808_811del | ENSP00000480669.3:p.Thr270ProfsTer2 | |
| ENST00000673673.2:c.808_811del | ENSP00000500979.2:p.Thr270ProfsTer2 | |
| ENST00000231790.8:c.808_811del MANE Select | ENSP00000231790.3:p.Thr270ProfsTer2 | |
| ENST00000413212.2:c.67+2979_67+2982del | ENSP00000400844.2:n.67+2979_67+2982del | |
| ENST00000432299.6:c.*870+2979_*870+2982del | ENSP00000416783.1:n.*870+2979_*870+2982de... | |
| ENST00000441265.6:c.85_88del | ENSP00000398392.2:p.Thr29ProfsTer2 | |
| ENST00000442249.6:n.693-2787_693-2784del | ||
| ENST00000447829.6:c.428-2787_428-2784del | ENSP00000399329.2:n.428-2787_428-2784del | |
| ENST00000539477.6:c.85_88del | ENSP00000443665.1:p.Thr29ProfsTer2 | |
| ENST00000673673.1:c.761_764del | ||
| ENST00000673713.1:n.839_842del | ||
| ENST00000673715.1:c.808_811del | ENSP00000501301.1:p.Thr270ProfsTer2 | |
| ENST00000673889.1:n.190_193del | ||
| ENST00000673897.1:c.*600_*603del | ENSP00000501109.1:n.*600_*603del | |
| ENST00000673899.1:c.677+5424_677+5427del | ENSP00000501030.1:n.677+5424_677+5427del | |
| ENST00000673947.1:c.*948_*951del | ENSP00000501304.1:n.*948_*951del | |
| ENST00000673972.1:c.*686_*689del | ENSP00000501281.1:n.*686_*689del | |
| ENST00000673990.1:n.776-2787_776-2784del | ||
| ENST00000674019.1:c.85_88del | ENSP00000501081.1:p.Thr29ProfsTer2 | |
| ENST00000674107.1:n.733-2787_733-2784del | ||
| ENST00000674111.1:c.808_811del | ENSP00000501162.1:p.Thr270ProfsTer2 | |
| ENST00000231790.6:c.808_811del | ENSP00000231790.2:p.Thr270ProfsTer2 | |
| ENST00000413212.1:c.113+2979_113+2982del | ||
| ENST00000435176.5:c.514_517del | ENSP00000402564.1:p.Thr172ProfsTer2 | |
| ENST00000441265.5:c.85_88del | ENSP00000398392.1:p.Thr29ProfsTer2 | |
| ENST00000447829.5:c.172-2787_172-2784del | ||
| ENST00000455445.6:c.85_88del | ENSP00000398272.2:p.Thr29ProfsTer2 | |
| ENST00000456676.6:c.783_786del | ||
| ENST00000458009.5:c.149_152del | ||
| ENST00000458205.6:c.85_88del | ENSP00000402667.2:p.Thr29ProfsTer2 | |
| ENST00000536378.5:c.85_88del | ENSP00000444286.2:p.Thr29ProfsTer2 | |
| ENST00000539477.5:c.85_88del | ENSP00000443665.1:p.Thr29ProfsTer2 | |
| NM_000249.3:c.808_811del , LRG_216t1:c.808_811del | NP_000240.1:p.Thr270ProfsTer2 | |
| NM_001167617.1:c.514_517del | NP_001161089.1:p.Thr172ProfsTer2 | |
| NM_001167618.1:c.85_88del | NP_001161090.1:p.Thr29ProfsTer2 | |
| NM_001167619.1:c.85_88del | NP_001161091.1:p.Thr29ProfsTer2 | |
| NM_001258271.1:c.808_811del | NP_001245200.1:p.Thr270ProfsTer2 | |
| NM_001258273.1:c.85_88del | NP_001245202.1:p.Thr29ProfsTer2 | |
| NM_001258274.1:c.85_88del | NP_001245203.1:p.Thr29ProfsTer2 | |
| XM_005265161.1:c.678-2787_678-2784del | XP_005265218.1:n.678-2787_678-2784del | |
| XM_005265163.1:c.85_88del | XP_005265220.1:p.Thr29ProfsTer2 | |
| XM_005265164.1:c.85_88del | XP_005265221.1:p.Thr29ProfsTer2 | |
| XM_005265166.1:c.-139-2787_-139-2784del | XP_005265223.1:n.-139-2787_-139-2784del | |
| XM_011533727.1:c.-37+2979_-37+2982del | XP_011532029.1:n.-37+2979_-37+2982del | |
| NM_001167617.2:c.514_517del | NP_001161089.1:p.Thr172ProfsTer2 | |
| NM_001167618.2:c.85_88del | NP_001161090.1:p.Thr29ProfsTer2 | |
| NM_001167619.2:c.85_88del | NP_001161091.1:p.Thr29ProfsTer2 | |
| NM_001258274.2:c.85_88del | NP_001245203.1:p.Thr29ProfsTer2 | |
| NM_001354615.1:c.85_88del | NP_001341544.1:p.Thr29ProfsTer2 | |
| NM_001354616.1:c.85_88del | NP_001341545.1:p.Thr29ProfsTer2 | |
| NM_001354617.1:c.85_88del | NP_001341546.1:p.Thr29ProfsTer2 | |
| NM_001354618.1:c.85_88del | NP_001341547.1:p.Thr29ProfsTer2 | |
| NM_001354619.1:c.85_88del | NP_001341548.1:p.Thr29ProfsTer2 | |
| NM_001354620.1:c.514_517del | NP_001341549.1:p.Thr172ProfsTer2 | |
| NM_001354621.1:c.-139-2787_-139-2784del | NP_001341550.1:n.-139-2787_-139-2784del | |
| NM_001354622.1:c.-139-2787_-139-2784del | NP_001341551.1:n.-139-2787_-139-2784del | |
| NM_001354623.1:c.-139-2787_-139-2784del | NP_001341552.1:n.-139-2787_-139-2784del | |
| NM_001354624.1:c.-37+2979_-37+2982del | NP_001341553.1:n.-37+2979_-37+2982del | |
| NM_001354625.1:c.-37+2979_-37+2982del | NP_001341554.1:n.-37+2979_-37+2982del | |
| NM_001354626.1:c.-37+2979_-37+2982del | NP_001341555.1:n.-37+2979_-37+2982del | |
| NM_001354627.1:c.-37+2979_-37+2982del | NP_001341556.1:n.-37+2979_-37+2982del | |
| NM_001354628.1:c.808_811del | NP_001341557.1:p.Thr270ProfsTer2 | |
| NM_001354629.1:c.709_712del | NP_001341558.1:p.Thr237ProfsTer2 | |
| NM_001354630.1:c.808_811del | NP_001341559.1:p.Thr270ProfsTer2 | |
| XM_005265161.2:c.678-2787_678-2784del | XP_005265218.1:n.678-2787_678-2784del | |
| XM_017006450.2:c.-139-2787_-139-2784del | XP_016861939.1:n.-139-2787_-139-2784del | |
| NM_000249.4:c.808_811del MANE Select | NP_000240.1:p.Thr270ProfsTer2 | |
| NM_001167617.3:c.514_517del | NP_001161089.1:p.Thr172ProfsTer2 | |
| NM_001167618.3:c.85_88del | NP_001161090.1:p.Thr29ProfsTer2 | |
| NM_001167619.3:c.85_88del | NP_001161091.1:p.Thr29ProfsTer2 | |
| NM_001258271.2:c.808_811del | NP_001245200.1:p.Thr270ProfsTer2 | |
| NM_001258273.2:c.85_88del | NP_001245202.1:p.Thr29ProfsTer2 | |
| NM_001258274.3:c.85_88del | NP_001245203.1:p.Thr29ProfsTer2 | |
| NM_001354615.2:c.85_88del | NP_001341544.1:p.Thr29ProfsTer2 | |
| NM_001354616.2:c.85_88del | NP_001341545.1:p.Thr29ProfsTer2 | |
| NM_001354617.2:c.85_88del | NP_001341546.1:p.Thr29ProfsTer2 | |
| NM_001354618.2:c.85_88del | NP_001341547.1:p.Thr29ProfsTer2 | |
| NM_001354619.2:c.85_88del | NP_001341548.1:p.Thr29ProfsTer2 | |
| NM_001354620.2:c.514_517del | NP_001341549.1:p.Thr172ProfsTer2 | |
| NM_001354621.2:c.-139-2787_-139-2784del | NP_001341550.1:n.-139-2787_-139-2784del | |
| NM_001354622.2:c.-139-2787_-139-2784del | NP_001341551.1:n.-139-2787_-139-2784del | |
| NM_001354623.2:c.-139-2787_-139-2784del | NP_001341552.1:n.-139-2787_-139-2784del | |
| NM_001354624.2:c.-37+2979_-37+2982del | NP_001341553.1:n.-37+2979_-37+2982del | |
| NM_001354625.2:c.-37+2979_-37+2982del | NP_001341554.1:n.-37+2979_-37+2982del | |
| NM_001354626.2:c.-37+2979_-37+2982del | NP_001341555.1:n.-37+2979_-37+2982del | |
| NM_001354627.2:c.-37+2979_-37+2982del | NP_001341556.1:n.-37+2979_-37+2982del | |
| NM_001354628.2:c.808_811del | NP_001341557.1:p.Thr270ProfsTer2 | |
| NM_001354629.2:c.709_712del | NP_001341558.1:p.Thr237ProfsTer2 | |
| NM_001354630.2:c.808_811del | NP_001341559.1:p.Thr270ProfsTer2 |