Linked Data
ClinVar Variation Id:
89790
dbSNP Id:
rs587778923
MyVariant Identifiers:
chr3:g.37038148_37038151del (hg19)
chr3:g.37038147_37038150del (hg19)
chr3:g.36996657_36996660del (hg38)
chr3:g.36996656_36996659del (hg38)
PubMed:
PMID:18759827
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.36996657_36996660del , CM000665.2:g.36996657_36996660del | GRCh38 |
| NC_000003.11:g.37038148_37038151del , CM000665.1:g.37038148_37038151del | GRCh37 |
| NC_000003.10:g.37013152_37013155del | NCBI36 |
| NG_007109.2:g.8308_8311del , LRG_216:g.8308_8311del | |
| NG_008418.1:g.1646_1649del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000413740.2:c.155_158del | ENSP00000416476.2:p.Lys52ArgfsTer4 | |
| ENST00000429117.6:c.-135_-132del | ENSP00000407019.2:n.-135_-132del | |
| ENST00000450420.6:c.155_158del | ENSP00000393006.2:p.Lys52ArgfsTer4 | |
| ENST00000456676.7:c.155_158del | ENSP00000416687.3:p.Lys52ArgfsTer4 | |
| ENST00000458009.6:c.155_158del | ENSP00000411066.2:p.Lys52ArgfsTer4 | |
| ENST00000492474.6:c.-569_-566del | ENSP00000518393.1:n.-569_-566del | |
| ENST00000616768.6:c.155_158del | ENSP00000480669.3:p.Lys52ArgfsTer4 | |
| ENST00000673673.2:c.155_158del | ENSP00000500979.2:p.Lys52ArgfsTer4 | |
| ENST00000231790.8:c.155_158del MANE Select | ENSP00000231790.3:p.Lys52ArgfsTer4 | |
| ENST00000413212.2:c.-569_-566del | ENSP00000400844.2:n.-569_-566del | |
| ENST00000432299.6:c.*235_*238del | ENSP00000416783.1:n.*235_*238del | |
| ENST00000441265.6:c.-569_-566del | ENSP00000398392.2:n.-569_-566del | |
| ENST00000442249.6:n.170_173del | ||
| ENST00000447829.6:c.-135_-132del | ENSP00000399329.2:n.-135_-132del | |
| ENST00000476172.6:n.1120-1313_1120-1310del | ||
| ENST00000539477.6:c.-477_-474del | ENSP00000443665.1:n.-477_-474del | |
| ENST00000673673.1:c.108_111del | ||
| ENST00000673686.1:n.145_148del | ||
| ENST00000673713.1:n.186_189del | ||
| ENST00000673715.1:c.155_158del | ENSP00000501301.1:p.Lys52ArgfsTer4 | |
| ENST00000673897.1:c.116+2994_116+2997del | ENSP00000501109.1:n.116+2994_116+2997del | |
| ENST00000673899.1:c.155_158del | ENSP00000501030.1:p.Lys52ArgfsTer4 | |
| ENST00000673947.1:c.*295_*298del | ENSP00000501304.1:n.*295_*298del | |
| ENST00000673972.1:c.*33_*36del | ENSP00000501281.1:n.*33_*36del | |
| ENST00000673990.1:n.140_143del | ||
| ENST00000674019.1:c.-569_-566del | ENSP00000501081.1:n.-569_-566del | |
| ENST00000674107.1:n.97_100del | ||
| ENST00000674111.1:c.155_158del | ENSP00000501162.1:p.Lys52ArgfsTer4 | |
| ENST00000231790.6:c.155_158del | ENSP00000231790.2:p.Lys52ArgfsTer4 | |
| ENST00000429117.5:c.-135_-132del | ENSP00000407019.1:n.-135_-132del | |
| ENST00000432299.5:c.*235_*238del | ENSP00000416783.1:n.*235_*238del | |
| ENST00000435176.5:c.-135_-132del | ENSP00000402564.1:n.-135_-132del | |
| ENST00000441265.5:c.-477_-474del | ENSP00000398392.1:n.-477_-474del | |
| ENST00000442249.5:c.116+2994_116+2997del | ENSP00000387511.1:n.116+2994_116+2997del | |
| ENST00000454028.5:c.*33_*36del | ENSP00000392649.1:n.*33_*36del | |
| ENST00000455445.6:c.-569_-566del | ENSP00000398272.2:n.-569_-566del | |
| ENST00000456676.6:c.130_133del | ||
| ENST00000457004.5:c.*33_*36del | ENSP00000407773.1:n.*33_*36del | |
| ENST00000458205.6:c.-714_-711del | ENSP00000402667.2:n.-714_-711del | |
| ENST00000466900.5:n.82_85del | ||
| ENST00000476172.5:n.277_280del | ||
| ENST00000485889.1:n.159_162del | ||
| ENST00000492474.5:n.178_181del | ||
| ENST00000536378.5:c.-517+2994_-517+2997del | ENSP00000444286.2:n.-517+2994_-517+2997de... | |
| ENST00000539477.5:c.-477_-474del | ENSP00000443665.1:n.-477_-474del | |
| NM_000249.3:c.155_158del , LRG_216t1:c.155_158del | NP_000240.1:p.Lys52ArgfsTer4 | |
| NM_001167617.1:c.-135_-132del | NP_001161089.1:n.-135_-132del | |
| NM_001167618.1:c.-569_-566del | NP_001161090.1:n.-569_-566del | |
| NM_001167619.1:c.-477_-474del | NP_001161091.1:n.-477_-474del | |
| NM_001258271.1:c.155_158del | NP_001245200.1:p.Lys52ArgfsTer4 | |
| NM_001258273.1:c.-517+2994_-517+2997del | NP_001245202.1:n.-517+2994_-517+2997del | |
| NM_001258274.1:c.-714_-711del | NP_001245203.1:n.-714_-711del | |
| XM_005265161.1:c.155_158del | XP_005265218.1:p.Lys52ArgfsTer4 | |
| XM_005265163.1:c.-569_-566del | XP_005265220.1:n.-569_-566del | |
| XM_005265164.1:c.-569_-566del | XP_005265221.1:n.-569_-566del | |
| XM_005265166.1:c.-775_-772del | XP_005265223.1:n.-775_-772del | |
| XM_011533727.1:c.-672_-669del | XP_011532029.1:n.-672_-669del | |
| NM_001167617.2:c.-135_-132del | NP_001161089.1:n.-135_-132del | |
| NM_001167618.2:c.-569_-566del | NP_001161090.1:n.-569_-566del | |
| NM_001167619.2:c.-477_-474del | NP_001161091.1:n.-477_-474del | |
| NM_001258274.2:c.-714_-711del | NP_001245203.1:n.-714_-711del | |
| NM_001354615.1:c.-472_-469del | NP_001341544.1:n.-472_-469del | |
| NM_001354616.1:c.-477_-474del | NP_001341545.1:n.-477_-474del | |
| NM_001354617.1:c.-569_-566del | NP_001341546.1:n.-569_-566del | |
| NM_001354618.1:c.-569_-566del | NP_001341547.1:n.-569_-566del | |
| NM_001354619.1:c.-569_-566del | NP_001341548.1:n.-569_-566del | |
| NM_001354620.1:c.-135_-132del | NP_001341549.1:n.-135_-132del | |
| NM_001354621.1:c.-662_-659del | NP_001341550.1:n.-662_-659del | |
| NM_001354622.1:c.-775_-772del | NP_001341551.1:n.-775_-772del | |
| NM_001354623.1:c.-723+2767_-723+2770del | NP_001341552.1:n.-723+2767_-723+2770del | |
| NM_001354624.1:c.-672_-669del | NP_001341553.1:n.-672_-669del | |
| NM_001354625.1:c.-575_-572del | NP_001341554.1:n.-575_-572del | |
| NM_001354626.1:c.-672_-669del | NP_001341555.1:n.-672_-669del | |
| NM_001354627.1:c.-672_-669del | NP_001341556.1:n.-672_-669del | |
| NM_001354628.1:c.155_158del | NP_001341557.1:p.Lys52ArgfsTer4 | |
| NM_001354629.1:c.155_158del | NP_001341558.1:p.Lys52ArgfsTer4 | |
| NM_001354630.1:c.155_158del | NP_001341559.1:p.Lys52ArgfsTer4 | |
| XM_005265161.2:c.155_158del | XP_005265218.1:p.Lys52ArgfsTer4 | |
| XM_017006450.2:c.-662_-659del | XP_016861939.1:n.-662_-659del | |
| NM_000249.4:c.155_158del MANE Select | NP_000240.1:p.Lys52ArgfsTer4 | |
| NM_001167617.3:c.-135_-132del | NP_001161089.1:n.-135_-132del | |
| NM_001167618.3:c.-569_-566del | NP_001161090.1:n.-569_-566del | |
| NM_001167619.3:c.-477_-474del | NP_001161091.1:n.-477_-474del | |
| NM_001258271.2:c.155_158del | NP_001245200.1:p.Lys52ArgfsTer4 | |
| NM_001258273.2:c.-517+2994_-517+2997del | NP_001245202.1:n.-517+2994_-517+2997del | |
| NM_001258274.3:c.-714_-711del | NP_001245203.1:n.-714_-711del | |
| NM_001354615.2:c.-472_-469del | NP_001341544.1:n.-472_-469del | |
| NM_001354616.2:c.-477_-474del | NP_001341545.1:n.-477_-474del | |
| NM_001354617.2:c.-569_-566del | NP_001341546.1:n.-569_-566del | |
| NM_001354618.2:c.-569_-566del | NP_001341547.1:n.-569_-566del | |
| NM_001354619.2:c.-569_-566del | NP_001341548.1:n.-569_-566del | |
| NM_001354620.2:c.-135_-132del | NP_001341549.1:n.-135_-132del | |
| NM_001354621.2:c.-662_-659del | NP_001341550.1:n.-662_-659del | |
| NM_001354622.2:c.-775_-772del | NP_001341551.1:n.-775_-772del | |
| NM_001354623.2:c.-723+2767_-723+2770del | NP_001341552.1:n.-723+2767_-723+2770del | |
| NM_001354624.2:c.-672_-669del | NP_001341553.1:n.-672_-669del | |
| NM_001354625.2:c.-575_-572del | NP_001341554.1:n.-575_-572del | |
| NM_001354626.2:c.-672_-669del | NP_001341555.1:n.-672_-669del | |
| NM_001354627.2:c.-672_-669del | NP_001341556.1:n.-672_-669del | |
| NM_001354628.2:c.155_158del | NP_001341557.1:p.Lys52ArgfsTer4 | |
| NM_001354629.2:c.155_158del | NP_001341558.1:p.Lys52ArgfsTer4 | |
| NM_001354630.2:c.155_158del | NP_001341559.1:p.Lys52ArgfsTer4 |