Linked Data
ClinVar Variation Id:
39742
dbSNP Id:
rs151341424
MyVariant Identifiers:
chr15:g.74483197_74483198delinsTT (hg19)
chr15:g.74190856_74190857delinsTT (hg38)
PubMed:
PMID:21901792
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74190856_74190857delinsTT , CM000677.2:g.74190856_74190857delinsTT | GRCh38 |
| NC_000015.9:g.74483197_74483198delinsTT , CM000677.1:g.74483197_74483198delinsTT | GRCh37 |
| NC_000015.8:g.72270250_72270251delinsTT | NCBI36 |
| NG_009207.1:g.23174_23175delinsAA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395105.9:c.910_911delinsAA MANE Select | ENSP00000378537.4:p.Gly304Lys | |
| ENST00000323940.9:c.910_911delinsAA | ENSP00000326085.5:p.Gly304Lys | |
| ENST00000395105.8:c.910_911delinsAA | ENSP00000378537.4:p.Gly304Lys | |
| ENST00000416286.7:c.886_887delinsAA | ENSP00000400403.3:p.Gly296Lys | |
| ENST00000423167.6:c.883_884delinsAA | ENSP00000413012.2:p.Gly295Lys | |
| ENST00000449139.6:c.910_911delinsAA | ENSP00000410221.2:p.Gly304Lys | |
| ENST00000535552.5:c.1021_1022delinsAA | ENSP00000440238.1:p.Gly341Lys | |
| ENST00000545137.5:n.619_620delinsAA | ||
| ENST00000563965.5:c.1027_1028delinsAA | ENSP00000456609.1:p.Gly343Lys | |
| ENST00000569936.5:c.1040_1041delinsAA | ENSP00000461799.1:p.Arg347Lys | |
| ENST00000574278.5:c.955_956delinsAA | ENSP00000458827.1:p.Gly319Lys | |
| ENST00000574439.5:n.1182_1183delinsAA | ||
| ENST00000616000.4:c.910_911delinsAA | ENSP00000479112.1:p.Gly304Lys | |
| NM_001142617.1:c.910_911delinsAA | NP_001136089.1:p.Gly304Lys | |
| NM_001142618.1:c.910_911delinsAA | NP_001136090.1:p.Gly304Lys | |
| NM_001142619.1:c.883_884delinsAA | NP_001136091.1:p.Gly295Lys | |
| NM_001199040.1:c.1021_1022delinsAA | NP_001185969.1:p.Gly341Lys | |
| NM_001199041.1:c.955_956delinsAA | NP_001185970.1:p.Gly319Lys | |
| NM_001199042.1:c.1027_1028delinsAA | NP_001185971.1:p.Gly343Lys | |
| NM_022369.3:c.910_911delinsAA | NP_071764.3:p.Gly304Lys | |
| XM_011521883.1:c.910_911delinsAA | XP_011520185.1:p.Gly304Lys | |
| XM_011521884.1:c.721_722delinsAA | XP_011520186.1:p.Gly241Lys | |
| XM_011521885.1:c.1027_1028delinsAA | XP_011520187.1:p.Gly343Lys | |
| XR_931877.1:n.1033_1034delinsAA | ||
| XM_011521885.2:c.1027_1028delinsAA | XP_011520187.1:p.Gly343Lys | |
| XM_017022478.1:c.958_959delinsAA | XP_016877967.1:p.Gly320Lys | |
| XM_017022479.1:c.910_911delinsAA | XP_016877968.1:p.Gly304Lys | |
| XM_017022480.1:c.721_722delinsAA | XP_016877969.1:p.Gly241Lys | |
| XR_931877.2:n.1033_1034delinsAA | ||
| NM_022369.4:c.910_911delinsAA MANE Select | NP_071764.3:p.Gly304Lys | |
| NM_001142617.2:c.910_911delinsAA | NP_001136089.1:p.Gly304Lys | |
| NM_001142619.2:c.883_884delinsAA | NP_001136091.1:p.Gly295Lys | |
| NM_001199042.2:c.1027_1028delinsAA | NP_001185971.1:p.Gly343Lys | |
| NM_001142618.2:c.910_911delinsAA | NP_001136090.1:p.Gly304Lys | |
| NM_001199040.2:c.1021_1022delinsAA | NP_001185969.1:p.Gly341Lys | |
| NM_001199041.2:c.955_956delinsAA | NP_001185970.1:p.Gly319Lys |