Linked Data
ClinVar Variation Id:
555742
dbSNP Id:
rs1158945258
gnomAD v2:
18-21483000-CAG-C
gnomAD v3:
18-23903036-CAG-C
gnomAD v4:
18-23903036-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23903039_23903040del , CM000680.2:g.23903039_23903040del | GRCh38 |
| NC_000018.9:g.21483003_21483004del , CM000680.1:g.21483003_21483004del | GRCh37 |
| NC_000018.8:g.19737001_19737002del | NCBI36 |
| NG_007853.2:g.218442_218443del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269217.11:c.1405_1406del MANE Plus Clinical | ENSP00000269217.5:p.Ser469Ter | |
| ENST00000313654.14:c.6232_6233del MANE Select | ENSP00000324532.8:p.Ser2078Ter | |
| ENST00000649721.1:c.3124_3125del | ENSP00000497885.1:p.Ser1042Ter | |
| ENST00000269217.10:c.1405_1406del | ENSP00000269217.5:p.Ser469Ter | |
| ENST00000313654.13:c.6232_6233del | ENSP00000324532.8:p.Ser2078Ter | |
| ENST00000399516.7:c.6064_6065del | ENSP00000382432.2:p.Ser2022Ter | |
| ENST00000586751.5:c.1010_1011del | ||
| ENST00000587184.5:c.1237_1238del | ENSP00000466557.1:p.Ser413Ter | |
| ENST00000588770.5:n.810_811del | ||
| NM_000227.4:c.1405_1406del | NP_000218.3:p.Ser469Ter | |
| NM_001127717.2:c.6064_6065del | NP_001121189.2:p.Ser2022Ter | |
| NM_001127718.2:c.1237_1238del | NP_001121190.2:p.Ser413Ter | |
| NM_198129.2:c.6232_6233del | NP_937762.2:p.Ser2078Ter | |
| XM_011525978.1:c.6259_6260del | XP_011524280.1:p.Ser2087Ter | |
| XM_011525979.1:c.6250_6251del | XP_011524281.1:p.Ser2084Ter | |
| XM_011525980.1:c.6241_6242del | XP_011524282.1:p.Ser2081Ter | |
| XM_011525981.1:c.6127_6128del | XP_011524283.1:p.Ser2043Ter | |
| XM_011525982.1:c.6259_6260del | XP_011524284.1:p.Ser2087Ter | |
| XM_011525978.2:c.6259_6260del | XP_011524280.1:p.Ser2087Ter | |
| XM_011525979.2:c.6250_6251del | XP_011524281.1:p.Ser2084Ter | |
| XM_011525980.2:c.6241_6242del | XP_011524282.1:p.Ser2081Ter | |
| XM_011525981.2:c.6127_6128del | XP_011524283.1:p.Ser2043Ter | |
| XM_011525982.2:c.6259_6260del | XP_011524284.1:p.Ser2087Ter | |
| XM_017025743.1:c.4111_4112del | XP_016881232.1:p.Ser1371Ter | |
| XM_017025744.1:c.1801_1802del | XP_016881233.1:p.Ser601Ter | |
| XR_001753199.1:n.6500_6501del | ||
| NM_000227.5:c.1405_1406del | NP_000218.3:p.Ser469Ter | |
| NM_001127717.3:c.6064_6065del | NP_001121189.2:p.Ser2022Ter | |
| NM_001127718.3:c.1237_1238del | NP_001121190.2:p.Ser413Ter | |
| NM_198129.3:c.6232_6233del | NP_937762.2:p.Ser2078Ter | |
| NM_000227.6:c.1405_1406del MANE Plus Clinical | NP_000218.3:p.Ser469Ter | |
| NM_001127717.4:c.6064_6065del | NP_001121189.2:p.Ser2022Ter | |
| NM_001127718.4:c.1237_1238del | NP_001121190.2:p.Ser413Ter | |
| NM_198129.4:c.6232_6233del MANE Select | NP_937762.2:p.Ser2078Ter |