Linked Data
ClinVar Variation Id:
55252
dbSNP Id:
rs80357561
gnomAD v4:
17-43074347-CAAGT-C
PubMed:
PMID:16267036
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43074351_43074354del , CM000679.2:g.43074351_43074354del | GRCh38 |
| NC_000017.10:g.41226368_41226371del , CM000679.1:g.41226368_41226371del | GRCh37 |
| NC_000017.9:g.38479894_38479897del | NCBI36 |
| NG_005905.2:g.143633_143636del , LRG_292:g.143633_143636del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4652_4655del | ENSP00000417241.2:p.Tyr1551CysfsTer6 | |
| ENST00000470026.6:c.4655_4658del | ENSP00000419274.2:p.Tyr1552CysfsTer6 | |
| ENST00000473961.6:c.4529_4532del | ENSP00000420201.2:p.Tyr1510CysfsTer6 | |
| ENST00000476777.6:c.4649_4652del | ENSP00000417554.2:p.Tyr1550CysfsTer6 | |
| ENST00000477152.6:c.4577_4580del | ENSP00000419988.2:p.Tyr1526CysfsTer6 | |
| ENST00000478531.6:c.1343_1346del | ENSP00000420412.2:p.Tyr448CysfsTer6 | |
| ENST00000489037.2:c.4577_4580del | ENSP00000420781.2:p.Tyr1526CysfsTer6 | |
| ENST00000493919.6:c.1205_1208del | ENSP00000418819.2:p.Tyr402CysfsTer6 | |
| ENST00000494123.6:c.4655_4658del | ENSP00000419103.2:p.Tyr1552CysfsTer6 | |
| ENST00000497488.2:c.3767_3770del | ENSP00000418986.2:p.Tyr1256CysfsTer6 | |
| ENST00000618469.2:c.4655_4658del | ENSP00000478114.2:p.Tyr1552CysfsTer6 | |
| ENST00000634433.2:c.4532_4535del | ENSP00000489431.2:p.Tyr1511CysfsTer6 | |
| ENST00000644379.2:c.4721_4724del | ENSP00000496570.2:p.Tyr1574CysfsTer6 | |
| ENST00000644555.2:c.1205_1208del | ENSP00000494614.2:p.Tyr402CysfsTer6 | |
| ENST00000652672.2:c.4514_4517del | ENSP00000498906.2:p.Tyr1505CysfsTer6 | |
| ENST00000484087.6:c.1217_1220del | ENSP00000419481.2:p.Tyr406CysfsTer6 | |
| ENST00000700182.1:c.1262_1265del | ENSP00000514849.1:p.Tyr421CysfsTer6 | |
| ENST00000357654.9:c.4655_4658del MANE Select | ENSP00000350283.3:p.Tyr1552CysfsTer6 | |
| ENST00000471181.7:c.4718_4721del | ENSP00000418960.2:p.Tyr1573CysfsTer6 | |
| ENST00000644379.1:c.1042_1045del | ||
| ENST00000352993.7:c.1229_1232del | ENSP00000312236.5:p.Tyr410CysfsTer6 | |
| ENST00000357654.7:c.4655_4658del | ENSP00000350283.3:p.Tyr1552CysfsTer6 | |
| ENST00000461221.5:c.*4438_*4441del | ENSP00000418548.1:n.*4438_*4441del | |
| ENST00000468300.5:c.1343_1346del | ENSP00000417148.1:p.Tyr448CysfsTer6 | |
| ENST00000471181.6:c.4718_4721del | ENSP00000418960.2:p.Tyr1573CysfsTer6 | |
| ENST00000478531.5:c.1343_1346del | ENSP00000420412.1:p.Tyr448CysfsTer6 | |
| ENST00000484087.5:c.968_971del | ENSP00000419481.1:p.Tyr323CysfsTer6 | |
| ENST00000491747.6:c.1343_1346del | ENSP00000420705.2:p.Tyr448CysfsTer6 | |
| ENST00000493795.5:c.4514_4517del | ENSP00000418775.1:p.Tyr1505CysfsTer6 | |
| ENST00000493919.5:c.1205_1208del | ENSP00000418819.1:p.Tyr402CysfsTer6 | |
| ENST00000586385.5:c.5-10400_5-10397del | ENSP00000465818.1:n.5-10400_5-10397del | |
| ENST00000591534.5:c.128_131del | ENSP00000467329.1:p.Tyr43CysfsTer6 | |
| ENST00000591849.5:c.-98-24161_-98-24158del | ENSP00000465347.1:n.-98-24161_-98-24158del | |
| NM_007294.3:c.4655_4658del , LRG_292t1:c.4655_4658del | NP_009225.1:p.Tyr1552CysfsTer6 | |
| NM_007297.3:c.4514_4517del | NP_009228.2:p.Tyr1505CysfsTer6 | |
| NM_007298.3:c.1343_1346del | NP_009229.2:p.Tyr448CysfsTer6 | |
| NM_007299.3:c.1343_1346del | NP_009230.2:p.Tyr448CysfsTer6 | |
| NM_007300.3:c.4718_4721del | NP_009231.2:p.Tyr1573CysfsTer6 | |
| NR_027676.1:n.4791_4794del | ||
| NM_007294.4:c.4655_4658del MANE Select | NP_009225.1:p.Tyr1552CysfsTer6 | |
| NM_007297.4:c.4514_4517del | NP_009228.2:p.Tyr1505CysfsTer6 | |
| NM_007299.4:c.1343_1346del | NP_009230.2:p.Tyr448CysfsTer6 | |
| NM_007300.4:c.4718_4721del | NP_009231.2:p.Tyr1573CysfsTer6 | |
| NR_027676.2:n.4832_4835del |