Linked Data
ClinVar Variation Id:
404503
ClinVar RCV Id:
RCV000476612
dbSNP Id:
rs1060500307
MyVariant Identifiers:
chr17:g.29541545_29541546insTTAT (hg19)
chr17:g.31214527_31214528insTTAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31214527_31214528insTTAT , CM000679.2:g.31214527_31214528insTTAT | GRCh38 |
| NC_000017.10:g.29541545_29541546insTTAT , CM000679.1:g.29541545_29541546insTTAT | GRCh37 |
| NC_000017.9:g.26565671_26565672insTTAT | NCBI36 |
| NG_009018.1:g.124551_124552insTTAT , LRG_214:g.124551_124552insTTAT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696138.1:c.1514_1515insTTAT | ENSP00000512431.1:p.Lys505AsnfsTer22 | |
| ENST00000686189.1:c.914_915insTTAT | ENSP00000509682.1:p.Lys305AsnfsTer22 | |
| ENST00000691014.1:c.1499_1500insTTAT | ENSP00000510595.1:p.Lys500AsnfsTer22 | |
| ENST00000358273.9:c.1469_1470insTTAT MANE Select | ENSP00000351015.4:p.Lys490AsnfsTer22 | |
| ENST00000356175.7:c.1469_1470insTTAT | ENSP00000348498.3:p.Lys490AsnfsTer22 | |
| ENST00000358273.8:c.1469_1470insTTAT | ENSP00000351015.4:p.Lys490AsnfsTer22 | |
| ENST00000431387.8:c.1469_1470insTTAT | ENSP00000412921.4:p.Lys490AsnfsTer22 | |
| ENST00000456735.6:c.467_468insTTAT | ENSP00000389907.2:p.Lys156AsnfsTer22 | |
| ENST00000487476.5:n.1852_1853insTTAT | ||
| ENST00000495910.6:c.1244_1245insTTAT | ||
| ENST00000579081.5:c.1571_1572insTTAT | ENSP00000462408.1:p.Lys524AsnfsTer22 | |
| NM_000267.3:c.1469_1470insTTAT , LRG_214t1:c.1469_1470insTTAT | NP_000258.1:p.Lys490AsnfsTer22 | |
| NM_001042492.2:c.1469_1470insTTAT , LRG_214t2:c.1469_1470insTTAT | NP_001035957.1:p.Lys490AsnfsTer22 | |
| NM_001128147.2:c.1469_1470insTTAT | NP_001121619.1:p.Lys490AsnfsTer22 | |
| XM_005257983.1:c.1469_1470insTTAT | XP_005258040.1:p.Lys490AsnfsTer22 | |
| XM_005257984.1:c.1469_1470insTTAT | XP_005258041.1:p.Lys490AsnfsTer22 | |
| XM_006721922.1:c.1499_1500insTTAT | XP_006721985.1:p.Lys500AsnfsTer22 | |
| XM_006721923.2:c.1460_1461insTTAT | XP_006721986.1:p.Lys487AsnfsTer22 | |
| XM_006721924.1:c.1499_1500insTTAT | XP_006721987.1:p.Lys500AsnfsTer22 | |
| XM_006721925.1:c.1499_1500insTTAT | XP_006721988.1:p.Lys500AsnfsTer22 | |
| XM_006721926.2:c.1499_1500insTTAT | XP_006721989.1:p.Lys500AsnfsTer22 | |
| XM_006721927.1:c.1499_1500insTTAT | XP_006721990.1:p.Lys500AsnfsTer22 | |
| XM_006721928.2:c.1499_1500insTTAT | XP_006721991.1:p.Lys500AsnfsTer22 | |
| XM_011524852.1:c.1499_1500insTTAT | XP_011523154.1:p.Lys500AsnfsTer22 | |
| XM_011524853.1:c.1460_1461insTTAT | XP_011523155.1:p.Lys487AsnfsTer22 | |
| XM_011524854.1:c.1460_1461insTTAT | XP_011523156.1:p.Lys487AsnfsTer22 | |
| XM_011524855.1:c.1460_1461insTTAT | XP_011523157.1:p.Lys487AsnfsTer22 | |
| XM_011524856.1:c.1460_1461insTTAT | XP_011523158.1:p.Lys487AsnfsTer22 | |
| XM_011524857.1:c.1499_1500insTTAT | XP_011523159.1:p.Lys500AsnfsTer22 | |
| NM_001042492.3:c.1469_1470insTTAT MANE Select | NP_001035957.1:p.Lys490AsnfsTer22 | |
| NM_001128147.3:c.1469_1470insTTAT | NP_001121619.1:p.Lys490AsnfsTer22 |