Linked Data
ClinVar Variation Id:
2783506
ClinVar RCV Id:
RCV003666095
gnomAD v4:
10-94562794-T-TA
MyVariant Identifiers:
chr10:g.96322551_96322552insA (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94562798dup , CM000672.2:g.94562798dup | GRCh38 |
| NC_000010.10:g.96322555dup , CM000672.1:g.96322555dup | GRCh37 |
| NC_000010.9:g.96312545dup | NCBI36 |
| NG_047057.1:g.22032dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371332.9:c.370+71dup | ENSP00000360383.6:n.370+71dup | |
| ENST00000394036.6:c.371-14dup | ENSP00000377601.2:n.371-14dup | |
| ENST00000394045.6:c.371-14dup | ENSP00000377609.1:n.371-14dup | |
| ENST00000419900.6:c.323-14dup | ENSP00000409945.2:n.323-14dup | |
| ENST00000475263.2:n.371-14dup | ||
| ENST00000630929.3:c.415-14dup | ENSP00000485823.1:n.415-14dup | |
| ENST00000698650.1:n.339+71dup | ||
| ENST00000698651.1:n.505-14dup | ||
| ENST00000698673.1:c.*271-14dup | ENSP00000513870.1:n.*271-14dup | |
| ENST00000698675.1:c.371-14dup | ENSP00000513940.1:n.371-14dup | |
| ENST00000698799.1:c.371-14dup | ENSP00000513942.1:n.371-14dup | |
| ENST00000698800.1:c.371-14dup | ENSP00000513943.1:n.371-14dup | |
| ENST00000698830.1:c.371-14dup | ENSP00000513967.1:n.371-14dup | |
| ENST00000348459.10:c.371-14dup MANE Select | ENSP00000239027.7:n.371-14dup | |
| ENST00000239026.10:c.-2-14dup | ENSP00000239026.7:n.-2-14dup | |
| ENST00000348459.9:c.371-14dup | ENSP00000239027.7:n.371-14dup | |
| ENST00000371332.8:c.21+71dup | ENSP00000360383.5:n.21+71dup | |
| ENST00000394036.5:c.371-14dup | ENSP00000377601.2:n.371-14dup | |
| ENST00000394045.5:c.371-14dup | ENSP00000377609.1:n.371-14dup | |
| ENST00000419900.5:c.323-14dup | ENSP00000409945.1:n.323-14dup | |
| ENST00000462057.2:n.220-14dup | ||
| NM_001289067.1:c.371-14dup | NP_001275996.1:n.371-14dup | |
| NM_001289068.1:c.323-14dup | NP_001275997.1:n.323-14dup | |
| NM_001289069.1:c.371-14dup | NP_001275998.1:n.371-14dup | |
| NM_001289070.1:c.371-14dup | NP_001275999.1:n.371-14dup | |
| NM_001289071.1:c.-2-14dup | NP_001276000.1:n.-2-14dup | |
| NM_001289072.1:c.371-14dup | NP_001276001.1:n.371-14dup | |
| NM_001289073.1:c.21+71dup | NP_001276002.1:n.21+71dup | |
| NM_001289074.1:c.-632-14dup | NP_001276003.1:n.-632-14dup | |
| NM_001289075.1:c.-651-14dup | NP_001276004.1:n.-651-14dup | |
| NM_018063.4:c.371-14dup | NP_060533.2:n.371-14dup | |
| XM_024447968.1:c.371-14dup | XP_024303736.1:n.371-14dup | |
| NM_018063.5:c.371-14dup MANE Select | NP_060533.2:n.371-14dup | |
| NM_001289068.2:c.323-14dup | NP_001275997.1:n.323-14dup | |
| NM_001289069.2:c.371-14dup | NP_001275998.1:n.371-14dup | |
| NM_001289071.2:c.-2-14dup | NP_001276000.1:n.-2-14dup | |
| NM_001289072.2:c.371-14dup | NP_001276001.1:n.371-14dup | |
| NM_001289073.2:c.21+71dup | NP_001276002.1:n.21+71dup | |
| NM_001289074.2:c.-632-14dup | NP_001276003.1:n.-632-14dup | |
| NM_001289075.2:c.-651-14dup | NP_001276004.1:n.-651-14dup | |
| NM_001289067.2:c.371-14dup | NP_001275996.1:n.371-14dup | |
| NM_001289070.2:c.371-14dup | NP_001275999.1:n.371-14dup |