Linked Data
ClinVar Variation Id:
190347
ClinVar RCV Id:
RCV000192146
dbSNP Id:
rs797044580
MyVariant Identifiers:
chr17:g.42989154_42989155delinsAG (hg19)
chr17:g.44911786_44911787delinsAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44911786_44911787delinsAG , CM000679.2:g.44911786_44911787delinsAG | GRCh38 |
| NC_000017.10:g.42989154_42989155delinsAG , CM000679.1:g.42989154_42989155delinsAG | GRCh37 |
| NC_000017.9:g.40344680_40344681delinsAG | NCBI36 |
| NG_008401.1:g.8760_8761delinsCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253408.11:c.791_792delinsCT | ENSP00000253408.5:p.Leu264Pro | |
| ENST00000435360.8:c.791_792delinsCT | ENSP00000403962.1:p.Leu264Pro | |
| ENST00000253408.10:c.791_792delinsCT | ENSP00000253408.5:p.Leu264Pro | |
| ENST00000435360.7:c.791_792delinsCT | ENSP00000403962.1:p.Leu264Pro | |
| ENST00000586127.6:n.1320_1321delinsCT | ||
| ENST00000586793.6:c.791_792delinsCT | ENSP00000468500.2:p.Leu264Pro | |
| ENST00000587997.6:n.267_268delinsCT | ||
| ENST00000588735.3:c.791_792delinsCT MANE Select | ENSP00000466598.2:p.Leu264Pro | |
| ENST00000591327.2:n.1945_1946delinsCT | ||
| ENST00000592320.6:c.619-466_619-465delinsCT | ENSP00000465320.1:n.619-466_619-465delinsCT | |
| ENST00000638281.1:c.791_792delinsCT | ENSP00000491088.1:p.Leu264Pro | |
| ENST00000638618.1:c.446_447delinsCT | ENSP00000492832.1:p.Leu149Pro | |
| ENST00000639277.1:c.791_792delinsCT | ENSP00000492432.1:p.Leu264Pro | |
| ENST00000640552.1:n.805_806delinsCT | ||
| ENST00000253408.9:c.791_792delinsCT | ENSP00000253408.4:p.Leu264Pro | |
| ENST00000376990.8:c.*190_*191delinsCT | ENSP00000366189.4:n.*190_*191delinsCT | |
| ENST00000435360.6:c.791_792delinsCT | ENSP00000403962.1:p.Leu264Pro | |
| ENST00000586793.5:c.791_792delinsCT | ENSP00000468500.1:p.Leu264Pro | |
| ENST00000587997.5:c.267_268delinsCT | ||
| ENST00000588316.1:c.695_696delinsCT | ENSP00000465629.1:p.Leu232Pro | |
| ENST00000588640.5:n.171_172delinsCT | ||
| ENST00000588735.1:c.82+3618_82+3619delinsCT | ENSP00000466598.1:n.82+3618_82+3619delinsCT | |
| ENST00000588957.5:c.59_60delinsCT | ENSP00000465565.1:p.Leu20Pro | |
| ENST00000590922.1:n.441_442delinsCT | ||
| ENST00000591719.5:n.425_426delinsCT | ||
| ENST00000592320.5:c.619-466_619-465delinsCT | ENSP00000465320.1:n.619-466_619-465delinsCT | |
| NM_001131019.2:c.791_792delinsCT | NP_001124491.1:p.Leu264Pro | |
| NM_001242376.1:c.791_792delinsCT | NP_001229305.1:p.Leu264Pro | |
| NM_002055.4:c.791_792delinsCT | NP_002046.1:p.Leu264Pro | |
| NM_001363846.1:c.791_792delinsCT | NP_001350775.1:p.Leu264Pro | |
| XM_024450690.1:c.995_996delinsCT | XP_024306458.1:p.Leu332Pro | |
| XM_024450691.1:c.995_996delinsCT | XP_024306459.1:p.Leu332Pro | |
| XM_024450692.1:c.995_996delinsCT | XP_024306460.1:p.Leu332Pro | |
| XM_024450693.1:c.995_996delinsCT | XP_024306461.1:p.Leu332Pro | |
| NM_002055.5:c.791_792delinsCT MANE Select | NP_002046.1:p.Leu264Pro | |
| NM_001131019.3:c.791_792delinsCT | NP_001124491.1:p.Leu264Pro | |
| NM_001242376.2:c.791_792delinsCT | NP_001229305.1:p.Leu264Pro | |
| NM_001242376.3:c.791_792delinsCT | NP_001229305.1:p.Leu264Pro | |
| NM_001363846.2:c.791_792delinsCT | NP_001350775.1:p.Leu264Pro |