Linked Data
ClinVar Variation Id:
157571
ClinVar RCV Id:
RCV000144915
dbSNP Id:
rs606231278
MyVariant Identifiers:
chr15:g.43527027_43527031delinsTGAAGGA (hg19)
chr15:g.43234829_43234833delinsTGAAGGA (hg38)
PubMed:
PMID:22622422
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43234829_43234833delinsTGAAGGA , CM000677.2:g.43234829_43234833delinsTGAAGGA | GRCh38 |
| NC_000015.9:g.43527027_43527031delinsTGAAGGA , CM000677.1:g.43527027_43527031delinsTGAAGGA | GRCh37 |
| NC_000015.8:g.41314319_41314323delinsTGAAGGA | NCBI36 |
| NG_016124.1:g.37025_37029delinsTCCTTCA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000220420.10:c.1811_1815delinsTCCTTCA MANE Select | ENSP00000220420.5:p.Ser604IlefsTer9 | |
| ENST00000220420.9:c.1811_1815delinsTCCTTCA | ENSP00000220420.5:p.Ser604IlefsTer9 | |
| ENST00000349114.8:c.1565_1569delinsTCCTTCA | ENSP00000220419.8:p.Ser522IlefsTer9 | |
| ENST00000396996.3:n.1287_1291delinsTCCTTCA | ||
| ENST00000610827.4:c.1808_1812delinsTCCTTCA | ENSP00000479732.1:p.Ser603IlefsTer9 | |
| ENST00000611276.4:c.1562_1566delinsTCCTTCA | ENSP00000482542.1:p.Ser521IlefsTer9 | |
| ENST00000622115.1:c.1814_1818delinsTCCTTCA | ENSP00000479638.1:p.Ser605IlefsTer9 | |
| NM_004245.3:c.1565_1569delinsTCCTTCA | NP_004236.1:p.Ser522IlefsTer9 | |
| NM_201631.3:c.1811_1815delinsTCCTTCA | NP_963925.2:p.Ser604IlefsTer9 | |
| XM_011522230.1:c.782_786delinsTCCTTCA | XP_011520532.1:p.Ser261IlefsTer9 | |
| XR_931948.1:n.1888+636_1888+640delinsTCCTTCA | ||
| XM_011522230.2:c.782_786delinsTCCTTCA | XP_011520532.1:p.Ser261IlefsTer9 | |
| XM_017022729.1:c.782_786delinsTCCTTCA | XP_016878218.1:p.Ser261IlefsTer9 | |
| NM_004245.4:c.1565_1569delinsTCCTTCA | NP_004236.1:p.Ser522IlefsTer9 | |
| NM_201631.4:c.1811_1815delinsTCCTTCA MANE Select | NP_963925.2:p.Ser604IlefsTer9 |