Linked Data
ClinVar Variation Id:
2893891
ClinVar RCV Id:
RCV003756268
dbSNP Id:
rs1553162954
ExAC:
1:3753043 T / TG
gnomAD v2:
1-3753043-T-TG
gnomAD v3:
1-3836479-T-TG
gnomAD v4:
1-3836479-T-TG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.3836479_3836480insG , CM000663.2:g.3836479_3836480insG | GRCh38 |
| NC_000001.10:g.3753043_3753044insG , CM000663.1:g.3753043_3753044insG | GRCh37 |
| NC_000001.9:g.3742903_3742904insG | NCBI36 |
| NG_046726.1:g.25754_25755insC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378230.8:c.1317+15_1317+16insC MANE Select | ENSP00000367476.3:n.1317+15_1317+16insC | |
| ENST00000428079.6:c.1317+15_1317+16insC | ENSP00000394989.2:n.1317+15_1317+16insC | |
| ENST00000438539.6:n.364+309_364+310insC | ||
| ENST00000461667.2:c.1317+15_1317+16insC | ENSP00000463605.2:n.1317+15_1317+16insC | |
| ENST00000674544.1:c.1143+15_1143+16insC | ENSP00000502641.1:n.1143+15_1143+16insC | |
| ENST00000674558.1:c.1317+15_1317+16insC | ENSP00000501829.1:n.1317+15_1317+16insC | |
| ENST00000674623.1:c.1317+15_1317+16insC | ENSP00000501733.1:n.1317+15_1317+16insC | |
| ENST00000674879.1:n.2253+15_2253+16insC | ||
| ENST00000674985.1:c.*175+15_*175+16insC | ENSP00000502482.1:n.*175+15_*175+16insC | |
| ENST00000675108.1:c.*1233+15_*1233+16insC | ENSP00000502131.1:n.*1233+15_*1233+16insC | |
| ENST00000675200.1:c.1143+15_1143+16insC | ENSP00000502512.1:n.1143+15_1143+16insC | |
| ENST00000675334.1:n.1121+15_1121+16insC | ||
| ENST00000675375.1:c.1143+15_1143+16insC | ENSP00000502180.1:n.1143+15_1143+16insC | |
| ENST00000675666.1:c.1317+15_1317+16insC | ENSP00000502548.1:n.1317+15_1317+16insC | |
| ENST00000675677.1:c.1119+812_1119+813insC | ENSP00000501944.1:n.1119+812_1119+813insC | |
| ENST00000675750.1:c.*646+15_*646+16insC | ENSP00000502342.1:n.*646+15_*646+16insC | |
| ENST00000675966.1:n.2989+15_2989+16insC | ||
| ENST00000676009.1:c.1317+15_1317+16insC | ENSP00000502246.1:n.1317+15_1317+16insC | |
| ENST00000676052.1:c.1335+15_1335+16insC | ENSP00000502793.1:n.1335+15_1335+16insC | |
| ENST00000378230.7:c.1317+15_1317+16insC | ENSP00000367476.3:n.1317+15_1317+16insC | |
| ENST00000443466.1:c.399+15_399+16insC | ENSP00000411927.1:n.399+15_399+16insC | |
| ENST00000460038.5:n.222+435_222+436insC | ||
| ENST00000494653.5:n.1641+15_1641+16insC | ||
| NM_014704.3:c.1317+15_1317+16insC | NP_055519.1:n.1317+15_1317+16insC | |
| XM_005244815.3:c.1425+15_1425+16insC | XP_005244872.1:n.1425+15_1425+16insC | |
| XM_011542473.1:c.1443+15_1443+16insC | XP_011540775.1:n.1443+15_1443+16insC | |
| XM_011542474.1:c.1335+15_1335+16insC | XP_011540776.1:n.1335+15_1335+16insC | |
| XM_011542475.1:c.1269+15_1269+16insC | XP_011540777.1:n.1269+15_1269+16insC | |
| XM_011542476.1:c.1245+812_1245+813insC | XP_011540778.1:n.1245+812_1245+813insC | |
| XM_011542477.1:c.1071+812_1071+813insC | XP_011540779.1:n.1071+812_1071+813insC | |
| XM_011542478.1:c.1443+15_1443+16insC | XP_011540780.1:n.1443+15_1443+16insC | |
| XM_005244815.4:c.1425+15_1425+16insC | XP_005244872.1:n.1425+15_1425+16insC | |
| XM_011542474.3:c.1335+15_1335+16insC | XP_011540776.1:n.1335+15_1335+16insC | |
| XM_017002918.2:c.1143+15_1143+16insC | XP_016858407.1:n.1143+15_1143+16insC | |
| XM_017002919.2:c.1119+812_1119+813insC | XP_016858408.1:n.1119+812_1119+813insC | |
| XM_024451101.1:c.1443+15_1443+16insC | XP_024306869.1:n.1443+15_1443+16insC | |
| XM_024451102.1:c.1269+15_1269+16insC | XP_024306870.1:n.1269+15_1269+16insC | |
| XM_024451103.1:c.1251+15_1251+16insC | XP_024306871.1:n.1251+15_1251+16insC | |
| XM_024451104.1:c.1245+812_1245+813insC | XP_024306872.1:n.1245+812_1245+813insC | |
| XM_024451106.1:c.1071+812_1071+813insC | XP_024306874.1:n.1071+812_1071+813insC | |
| XM_024451108.1:c.1443+15_1443+16insC | XP_024306876.1:n.1443+15_1443+16insC | |
| NM_014704.4:c.1317+15_1317+16insC MANE Select | NP_055519.1:n.1317+15_1317+16insC |