Linked Data
ClinVar Variation Id:
55188
ClinVar RCV Id:
RCV000112331
dbSNP Id:
rs273900731
MyVariant Identifiers:
chr17:g.41228586_41228598delinsAA (hg19)
chr17:g.43076569_43076581delinsAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43076569_43076581delinsAA , CM000679.2:g.43076569_43076581delinsAA | GRCh38 |
| NC_000017.10:g.41228586_41228598delinsAA , CM000679.1:g.41228586_41228598delinsAA | GRCh37 |
| NC_000017.9:g.38482112_38482124delinsAA | NCBI36 |
| NG_005905.2:g.141403_141415delinsTT , LRG_292:g.141403_141415delinsTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4388_4400delinsTT | ENSP00000417241.2:p.Pro1463LeufsTer8 | |
| ENST00000470026.6:c.4391_4403delinsTT | ENSP00000419274.2:p.Pro1464LeufsTer8 | |
| ENST00000473961.6:c.4265_4277delinsTT | ENSP00000420201.2:p.Pro1422LeufsTer8 | |
| ENST00000476777.6:c.4385_4397delinsTT | ENSP00000417554.2:p.Pro1462LeufsTer8 | |
| ENST00000477152.6:c.4313_4325delinsTT | ENSP00000419988.2:p.Pro1438LeufsTer8 | |
| ENST00000478531.6:c.1079_1091delinsTT | ENSP00000420412.2:p.Pro360LeufsTer8 | |
| ENST00000489037.2:c.4313_4325delinsTT | ENSP00000420781.2:p.Pro1438LeufsTer8 | |
| ENST00000493919.6:c.941_953delinsTT | ENSP00000418819.2:p.Pro314LeufsTer8 | |
| ENST00000494123.6:c.4391_4403delinsTT | ENSP00000419103.2:p.Pro1464LeufsTer8 | |
| ENST00000497488.2:c.3503_3515delinsTT | ENSP00000418986.2:p.Pro1168LeufsTer8 | |
| ENST00000618469.2:c.4391_4403delinsTT | ENSP00000478114.2:p.Pro1464LeufsTer8 | |
| ENST00000634433.2:c.4268_4280delinsTT | ENSP00000489431.2:p.Pro1423LeufsTer8 | |
| ENST00000644379.2:c.4457_4469delinsTT | ENSP00000496570.2:p.Pro1486LeufsTer8 | |
| ENST00000644555.2:c.941_953delinsTT | ENSP00000494614.2:p.Pro314LeufsTer8 | |
| ENST00000652672.2:c.4250_4262delinsTT | ENSP00000498906.2:p.Pro1417LeufsTer8 | |
| ENST00000484087.6:c.953_965delinsTT | ENSP00000419481.2:p.Pro318LeufsTer8 | |
| ENST00000700182.1:c.998_1010delinsTT | ENSP00000514849.1:p.Pro333LeufsTer8 | |
| ENST00000357654.9:c.4391_4403delinsTT MANE Select | ENSP00000350283.3:p.Pro1464LeufsTer8 | |
| ENST00000471181.7:c.4454_4466delinsTT | ENSP00000418960.2:p.Pro1485LeufsTer8 | |
| ENST00000644379.1:c.778_790delinsTT | ||
| ENST00000352993.7:c.965_977delinsTT | ENSP00000312236.5:p.Pro322LeufsTer8 | |
| ENST00000357654.7:c.4391_4403delinsTT | ENSP00000350283.3:p.Pro1464LeufsTer8 | |
| ENST00000461221.5:c.*4174_*4186delinsTT | ENSP00000418548.1:n.*4174_*4186delinsTT | |
| ENST00000461574.1:c.682_694delinsTT | ||
| ENST00000468300.5:c.1079_1091delinsTT | ENSP00000417148.1:p.Pro360LeufsTer8 | |
| ENST00000471181.6:c.4454_4466delinsTT | ENSP00000418960.2:p.Pro1485LeufsTer8 | |
| ENST00000478531.5:c.1079_1091delinsTT | ENSP00000420412.1:p.Pro360LeufsTer8 | |
| ENST00000484087.5:c.704_716delinsTT | ENSP00000419481.1:p.Pro235LeufsTer8 | |
| ENST00000487825.5:c.707_719delinsTT | ENSP00000418212.1:p.Pro236LeufsTer8 | |
| ENST00000491747.6:c.1079_1091delinsTT | ENSP00000420705.2:p.Pro360LeufsTer8 | |
| ENST00000493795.5:c.4250_4262delinsTT | ENSP00000418775.1:p.Pro1417LeufsTer8 | |
| ENST00000493919.5:c.941_953delinsTT | ENSP00000418819.1:p.Pro314LeufsTer8 | |
| ENST00000586385.5:c.5-12630_5-12618delinsTT | ENSP00000465818.1:n.5-12630_5-12618delinsTT | |
| ENST00000591534.5:c.-43-2060_-43-2048delinsTT | ENSP00000467329.1:n.-43-2060_-43-2048delinsTT | |
| ENST00000591849.5:c.-98-26391_-98-26379delinsTT | ENSP00000465347.1:n.-98-26391_-98-26379delinsTT | |
| ENST00000621897.1:n.282_294delinsTT | ||
| NM_007294.3:c.4391_4403delinsTT , LRG_292t1:c.4391_4403delinsTT | NP_009225.1:p.Pro1464LeufsTer8 | |
| NM_007297.3:c.4250_4262delinsTT | NP_009228.2:p.Pro1417LeufsTer8 | |
| NM_007298.3:c.1079_1091delinsTT | NP_009229.2:p.Pro360LeufsTer8 | |
| NM_007299.3:c.1079_1091delinsTT | NP_009230.2:p.Pro360LeufsTer8 | |
| NM_007300.3:c.4454_4466delinsTT | NP_009231.2:p.Pro1485LeufsTer8 | |
| NR_027676.1:n.4527_4539delinsTT | ||
| NM_007294.4:c.4391_4403delinsTT MANE Select | NP_009225.1:p.Pro1464LeufsTer8 | |
| NM_007297.4:c.4250_4262delinsTT | NP_009228.2:p.Pro1417LeufsTer8 | |
| NM_007299.4:c.1079_1091delinsTT | NP_009230.2:p.Pro360LeufsTer8 | |
| NM_007300.4:c.4454_4466delinsTT | NP_009231.2:p.Pro1485LeufsTer8 | |
| NR_027676.2:n.4568_4580delinsTT |