Linked Data
dbSNP Id:
rs863225388
MyVariant Identifiers:
chr2:g.47657055_47657072delinsAGTT (hg19)
chr2:g.47429916_47429933delinsAGTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47429916_47429933delinsAGTT , CM000664.2:g.47429916_47429933delinsAGTT | GRCh38 |
| NC_000002.11:g.47657055_47657072delinsAGTT , CM000664.1:g.47657055_47657072delinsAGTT | GRCh37 |
| NC_000002.10:g.47510559_47510576delinsAGTT | NCBI36 |
| NG_007110.2:g.31793_31810delinsAGTT , LRG_218:g.31793_31810delinsAGTT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644900.2:c.1251_1268delinsAGTT | ENSP00000495641.2:p.Ile418ValfsTer3 | |
| ENST00000233146.7:c.1251_1268delinsAGTT MANE Select | ENSP00000233146.2:p.Ile418ValfsTer3 | |
| ENST00000543555.6:c.1053_1070delinsAGTT | ENSP00000442697.1:p.Ile352ValfsTer3 | |
| ENST00000644092.1:c.1251_1268delinsAGTT | ENSP00000496351.1:p.Ile418ValfsTer3 | |
| ENST00000645339.1:c.1251_1268delinsAGTT | ENSP00000496441.1:p.Ile418ValfsTer3 | |
| ENST00000645506.1:c.1251_1268delinsAGTT | ENSP00000495455.1:p.Ile418ValfsTer3 | |
| ENST00000646415.1:c.1251_1268delinsAGTT | ENSP00000495543.1:p.Ile418ValfsTer3 | |
| ENST00000233146.6:c.1251_1268delinsAGTT | ENSP00000233146.2:p.Ile418ValfsTer3 | |
| ENST00000406134.5:c.1251_1268delinsAGTT | ENSP00000384199.1:p.Ile418ValfsTer3 | |
| ENST00000543555.5:c.1053_1070delinsAGTT | ENSP00000442697.1:p.Ile352ValfsTer3 | |
| ENST00000610696.4:c.1251_1268delinsAGTT | ENSP00000483159.1:p.Ile418ValfsTer3 | |
| ENST00000613514.4:c.1251_1268delinsAGTT | ENSP00000484137.1:p.Ile418ValfsTer3 | |
| ENST00000617333.3:c.*17_*34delinsAGTT | ENSP00000482468.1:n.*17_*34delinsAGTT | |
| ENST00000617938.4:c.*223_*240delinsAGTT | ENSP00000481158.1:n.*223_*240delinsAGTT | |
| ENST00000621359.2:c.1251_1268delinsAGTT | ENSP00000481416.1:p.Ile418ValfsTer3 | |
| NM_000251.2:c.1251_1268delinsAGTT , LRG_218t1:c.1251_1268delinsAGTT | NP_000242.1:p.Ile418ValfsTer3 | |
| NM_001258281.1:c.1053_1070delinsAGTT | NP_001245210.1:p.Ile352ValfsTer3 | |
| XM_005264332.2:c.1251_1268delinsAGTT | XP_005264389.2:p.Ile418ValfsTer3 | |
| XM_011532867.1:c.1251_1268delinsAGTT | XP_011531169.1:p.Ile418ValfsTer3 | |
| XR_939685.1:n.1323_1340delinsAGTT | ||
| XM_005264332.4:c.1251_1268delinsAGTT | XP_005264389.2:p.Ile418ValfsTer3 | |
| XM_011532867.2:c.1251_1268delinsAGTT | XP_011531169.1:p.Ile418ValfsTer3 | |
| XR_001738747.2:n.1313_1330delinsAGTT | ||
| XR_939685.2:n.1313_1330delinsAGTT | ||
| NM_000251.3:c.1251_1268delinsAGTT MANE Select | NP_000242.1:p.Ile418ValfsTer3 |