Linked Data
dbSNP Id:
rs1177605093
MyVariant Identifiers:
chr12:g.116450293_116450294insTT (hg19)
chr12:g.116012488_116012489insTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.116012489_116012490dup , CM000674.2:g.116012489_116012490dup | GRCh38 |
| NC_000012.11:g.116450294_116450295dup , CM000674.1:g.116450294_116450295dup | GRCh37 |
| NC_000012.10:g.114934677_114934678dup | NCBI36 |
| NG_023366.1:g.269697_269698dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.1280+307_1280+308dup MANE Select | ENSP00000281928.3:n.1280+307_1280+308dup | |
| ENST00000548743.2:c.1250+307_1250+308dup | ENSP00000448553.2:n.1250+307_1250+308dup | |
| ENST00000549786.2:c.708+307_708+308dup | ||
| ENST00000647567.1:c.1187+307_1187+308dup | ENSP00000497136.1:n.1187+307_1187+308dup | |
| ENST00000648737.1:n.1044+307_1044+308dup | ||
| ENST00000650226.1:c.1280+307_1280+308dup | ENSP00000496981.1:n.1280+307_1280+308dup | |
| ENST00000281928.7:c.1280+307_1280+308dup | ENSP00000281928.3:n.1280+307_1280+308dup | |
| NM_015335.4:c.1280+307_1280+308dup | NP_056150.1:n.1280+307_1280+308dup | |
| XM_011538080.1:c.1280+307_1280+308dup | XP_011536382.1:n.1280+307_1280+308dup | |
| XM_011538081.1:c.1280+307_1280+308dup | XP_011536383.1:n.1280+307_1280+308dup | |
| XM_011538082.1:c.1250+307_1250+308dup | XP_011536384.1:n.1250+307_1250+308dup | |
| XM_011538080.2:c.1280+307_1280+308dup | XP_011536382.1:n.1280+307_1280+308dup | |
| XM_011538081.2:c.1280+307_1280+308dup | XP_011536383.1:n.1280+307_1280+308dup | |
| XM_011538082.2:c.1250+307_1250+308dup | XP_011536384.1:n.1250+307_1250+308dup | |
| XM_017019090.1:c.1280+307_1280+308dup | XP_016874579.1:n.1280+307_1280+308dup | |
| NM_015335.5:c.1280+307_1280+308dup MANE Select | NP_056150.1:n.1280+307_1280+308dup |