Linked Data
ClinVar Variation Id:
3061155
ClinVar RCV Id:
RCV003982667
dbSNP Id:
rs1171740250
gnomAD v2:
7-44185139-TGCGCATTACGTCCTCGCTGCGGCTCTC-T
gnomAD v3:
7-44145540-TGCGCATTACGTCCTCGCTGCGGCTCTC-T
gnomAD v4:
7-44145540-TGCGCATTACGTCCTCGCTGCGGCTCTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44145547_44145573del , CM000669.2:g.44145547_44145573del | GRCh38 |
| NC_000007.13:g.44185146_44185172del , CM000669.1:g.44185146_44185172del | GRCh37 |
| NC_000007.12:g.44151671_44151697del | NCBI36 |
| NG_008847.1:g.48857_48883del | |
| NG_008847.2:g.57604_57630del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*1181_*1207del | ENSP00000379142.4:n.*1181_*1207del | |
| ENST00000616242.5:c.*303_*329del | ENSP00000482149.2:n.*303_*329del | |
| ENST00000683378.1:n.409_435del | ||
| ENST00000336642.9:c.217_243del | ENSP00000338009.5:p.Glu73_Arg81del | |
| ENST00000345378.7:c.1186_1212del | ENSP00000223366.2:p.Glu396_Arg404del | |
| ENST00000403799.8:c.1183_1209del MANE Select | ENSP00000384247.3:p.Glu395_Arg403del | |
| ENST00000671824.1:c.1246_1272del | ENSP00000500264.1:p.Glu416_Arg424del | |
| ENST00000672743.1:n.195_221del | ||
| ENST00000673284.1:c.1183_1209del | ENSP00000499852.1:p.Glu395_Arg403del | |
| ENST00000336642.8:c.235_261del | ENSP00000338009.4:p.Glu79_Arg87del | |
| ENST00000345378.6:c.1186_1212del | ENSP00000223366.2:p.Glu396_Arg404del | |
| ENST00000395796.7:c.1180_1206del | ENSP00000379142.3:p.Glu394_Arg402del | |
| ENST00000403799.7:c.1183_1209del | ENSP00000384247.3:p.Glu395_Arg403del | |
| ENST00000437084.1:c.1132_1158del | ENSP00000402840.1:p.Glu378_Arg386del | |
| ENST00000459642.1:n.563_589del | ||
| ENST00000616242.4:c.1180_1206del | ENSP00000482149.1:p.Glu394_Arg402del | |
| NM_000162.3:c.1183_1209del | NP_000153.1:p.Glu395_Arg403del | |
| NM_033507.1:c.1186_1212del | NP_277042.1:p.Glu396_Arg404del | |
| NM_033508.1:c.1180_1206del | NP_277043.1:p.Glu394_Arg402del | |
| NM_000162.4:c.1183_1209del | NP_000153.1:p.Glu395_Arg403del | |
| NM_001354800.1:c.1183_1209del | NP_001341729.1:p.Glu395_Arg403del | |
| NM_001354801.1:c.172_198del | NP_001341730.1:p.Glu58_Arg66del | |
| NM_001354802.1:c.43_69del | NP_001341731.1:p.Glu15_Arg23del | |
| NM_001354803.1:c.217_243del | NP_001341732.1:p.Glu73_Arg81del | |
| NM_033507.2:c.1186_1212del | NP_277042.1:p.Glu396_Arg404del | |
| NM_033508.2:c.1180_1206del | NP_277043.1:p.Glu394_Arg402del | |
| XM_024446707.1:c.43_69del | XP_024302475.1:p.Glu15_Arg23del | |
| NM_000162.5:c.1183_1209del MANE Select | NP_000153.1:p.Glu395_Arg403del | |
| NM_033507.3:c.1186_1212del | NP_277042.1:p.Glu396_Arg404del | |
| NM_033508.3:c.1180_1206del | NP_277043.1:p.Glu394_Arg402del | |
| NM_001354803.2:c.217_243del | NP_001341732.1:p.Glu73_Arg81del |