Linked Data
ClinVar Variation Id:
280882
ClinVar RCV Id:
RCV000330238
dbSNP Id:
rs886042008
MyVariant Identifiers:
chr1:g.100346728_100346731delinsT (hg19)
chr1:g.99881172_99881175delinsT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.99881172_99881175delinsT , CM000663.2:g.99881172_99881175delinsT | GRCh38 |
| NC_000001.10:g.100346728_100346731delinsT , CM000663.1:g.100346728_100346731delinsT | GRCh37 |
| NC_000001.9:g.100119316_100119319delinsT | NCBI36 |
| NG_012865.1:g.36089_36092delinsT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361915.8:c.1996_1999delinsT MANE Select | ENSP00000355106.3:p.His666Ter | |
| ENST00000637337.1:n.2207_2210delinsT | ||
| ENST00000294724.8:c.1996_1999delinsT | ENSP00000294724.4:p.His666Ter | |
| ENST00000361302.7:c.1948_1951delinsT | ENSP00000354971.3:p.His650Ter | |
| ENST00000361522.4:c.1945_1948delinsT | ENSP00000354635.4:p.His649Ter | |
| ENST00000361915.7:c.1996_1999delinsT | ENSP00000355106.3:p.His666Ter | |
| ENST00000370161.6:c.1948_1951delinsT | ENSP00000359180.2:p.His650Ter | |
| ENST00000370163.7:c.1996_1999delinsT | ENSP00000359182.3:p.His666Ter | |
| ENST00000370165.7:c.1996_1999delinsT | ENSP00000359184.3:p.His666Ter | |
| NM_000028.2:c.1996_1999delinsT | NP_000019.2:p.His666Ter | |
| NM_000642.2:c.1996_1999delinsT | NP_000633.2:p.His666Ter | |
| NM_000643.2:c.1996_1999delinsT | NP_000634.2:p.His666Ter | |
| NM_000644.2:c.1996_1999delinsT | NP_000635.2:p.His666Ter | |
| NM_000645.2:c.1945_1948delinsT | NP_000636.2:p.His649Ter | |
| NM_000646.2:c.1948_1951delinsT | NP_000637.2:p.His650Ter | |
| XM_005270557.1:c.1996_1999delinsT | XP_005270614.1:p.His666Ter | |
| XM_005270557.2:c.1996_1999delinsT | XP_005270614.1:p.His666Ter | |
| XM_017000501.2:c.256_259delinsT | XP_016855990.1:p.His86Ter | |
| NM_000642.3:c.1996_1999delinsT MANE Select | NP_000633.2:p.His666Ter |