Linked Data
ClinVar Variation Id:
425017
ClinVar RCV Id:
RCV000487946
dbSNP Id:
rs1064797173
MyVariant Identifiers:
chr12:g.105527561_105527562insA (hg19)
chr12:g.105133783_105133784insA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.105133784dup , CM000674.2:g.105133784dup | GRCh38 |
| NC_000012.11:g.105527562dup , CM000674.1:g.105527562dup | GRCh37 |
| NC_000012.10:g.104051692dup | NCBI36 |
| NG_034157.1:g.31071dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000332180.10:c.1214dup MANE Select | ENSP00000328062.6:p.Tyr405Ter | |
| ENST00000620430.5:c.1214dup | ENSP00000484713.1:p.Tyr405Ter | |
| ENST00000311317.8:n.1301dup | ||
| ENST00000332180.9:c.1214dup | ENSP00000328062.5:p.Tyr405Ter | |
| ENST00000550053.5:c.*656dup | ENSP00000448966.1:n.*656dup | |
| ENST00000620430.4:c.1214dup | ENSP00000484713.1:p.Tyr405Ter | |
| NM_001293640.1:c.1214dup | NP_001280569.1:p.Tyr405Ter | |
| NM_015275.2:c.1214dup | NP_056090.1:p.Tyr405Ter | |
| XM_005268746.3:c.1214dup | XP_005268803.1:p.Tyr405Ter | |
| XM_011538073.1:c.1214dup | XP_011536375.1:p.Tyr405Ter | |
| XM_011538074.1:c.650dup | XP_011536376.1:p.Tyr217Ter | |
| XM_011538075.1:c.1214dup | XP_011536377.1:p.Tyr405Ter | |
| XM_011538076.1:c.1214dup | XP_011536378.1:p.Tyr405Ter | |
| XM_011538077.1:c.1214dup | XP_011536379.1:p.Tyr405Ter | |
| XR_944511.1:n.1301dup | ||
| XM_011538073.3:c.1214dup | XP_011536375.1:p.Tyr405Ter | |
| XM_011538074.2:c.650dup | XP_011536376.1:p.Tyr217Ter | |
| XM_011538077.3:c.1214dup | XP_011536379.1:p.Tyr405Ter | |
| XM_017019082.2:c.1214dup | XP_016874571.1:p.Tyr405Ter | |
| XR_001748639.2:n.1289dup | ||
| XR_001748640.2:n.1289dup | ||
| XR_001748641.2:n.1289dup | ||
| NM_001293640.2:c.1214dup | NP_001280569.1:p.Tyr405Ter | |
| NM_015275.3:c.1214dup MANE Select | NP_056090.1:p.Tyr405Ter |