Linked Data
dbSNP Id:
rs764781591
MyVariant Identifiers:
chr17:g.29528539_29528540insAACACTAAG (hg19)
chr17:g.31201521_31201522insAACACTAAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31201521_31201522insAACACTAAG , CM000679.2:g.31201521_31201522insAACACTAAG | GRCh38 |
| NC_000017.10:g.29528539_29528540insAACACTAAG , CM000679.1:g.29528539_29528540insAACACTAAG | GRCh37 |
| NC_000017.9:g.26552665_26552666insAACACTAAG | NCBI36 |
| NG_009018.1:g.111545_111546insAACACTAAG , LRG_214:g.111545_111546insAACACTAAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.1260+36_1260+37insAACACTAAG | ENSP00000512431.1:n.1260+36_1260+37insAACACTAAG | |
| ENST00000686189.1:c.675+36_675+37insAACACTAAG | ENSP00000509682.1:n.675+36_675+37insAACACTAAG | |
| ENST00000688507.1:n.1002_1003insAACACTAAG | ||
| ENST00000691014.1:c.1260+36_1260+37insAACACTAAG | ENSP00000510595.1:n.1260+36_1260+37insAACACTAAG | |
| ENST00000692326.1:n.1579_1580insAACACTAAG | ||
| ENST00000358273.9:c.1260+36_1260+37insAACACTAAG MANE Select | ENSP00000351015.4:n.1260+36_1260+37insAACACTAAG | |
| ENST00000356175.7:c.1260+36_1260+37insAACACTAAG | ENSP00000348498.3:n.1260+36_1260+37insAACACTAAG | |
| ENST00000358273.8:c.1260+36_1260+37insAACACTAAG | ENSP00000351015.4:n.1260+36_1260+37insAACACTAAG | |
| ENST00000431387.8:c.1260+36_1260+37insAACACTAAG | ENSP00000412921.4:n.1260+36_1260+37insAACACTAAG | |
| ENST00000456735.6:c.258+36_258+37insAACACTAAG | ENSP00000389907.2:n.258+36_258+37insAACACTAAG | |
| ENST00000487476.5:n.1643+36_1643+37insAACACTAAG | ||
| ENST00000495910.6:c.1035+36_1035+37insAACACTAAG | ||
| ENST00000579081.5:c.1362+36_1362+37insAACACTAAG | ENSP00000462408.1:n.1362+36_1362+37insAACACTAAG | |
| NM_000267.3:c.1260+36_1260+37insAACACTAAG , LRG_214t1:c.1260+36_1260+37insAACACTAAG | NP_000258.1:n.1260+36_1260+37insAACACTAAG | |
| NM_001042492.2:c.1260+36_1260+37insAACACTAAG , LRG_214t2:c.1260+36_1260+37insAACACTAAG | NP_001035957.1:n.1260+36_1260+37insAACACTAAG | |
| NM_001128147.2:c.1260+36_1260+37insAACACTAAG | NP_001121619.1:n.1260+36_1260+37insAACACTAAG | |
| XM_005257983.1:c.1260+36_1260+37insAACACTAAG | XP_005258040.1:n.1260+36_1260+37insAACACTAAG | |
| XM_005257984.1:c.1260+36_1260+37insAACACTAAG | XP_005258041.1:n.1260+36_1260+37insAACACTAAG | |
| XM_006721922.1:c.1260+36_1260+37insAACACTAAG | XP_006721985.1:n.1260+36_1260+37insAACACTAAG | |
| XM_006721923.2:c.1221+36_1221+37insAACACTAAG | XP_006721986.1:n.1221+36_1221+37insAACACTAAG | |
| XM_006721924.1:c.1260+36_1260+37insAACACTAAG | XP_006721987.1:n.1260+36_1260+37insAACACTAAG | |
| XM_006721925.1:c.1260+36_1260+37insAACACTAAG | XP_006721988.1:n.1260+36_1260+37insAACACTAAG | |
| XM_006721926.2:c.1260+36_1260+37insAACACTAAG | XP_006721989.1:n.1260+36_1260+37insAACACTAAG | |
| XM_006721927.1:c.1260+36_1260+37insAACACTAAG | XP_006721990.1:n.1260+36_1260+37insAACACTAAG | |
| XM_006721928.2:c.1260+36_1260+37insAACACTAAG | XP_006721991.1:n.1260+36_1260+37insAACACTAAG | |
| XM_011524852.1:c.1260+36_1260+37insAACACTAAG | XP_011523154.1:n.1260+36_1260+37insAACACTAAG | |
| XM_011524853.1:c.1221+36_1221+37insAACACTAAG | XP_011523155.1:n.1221+36_1221+37insAACACTAAG | |
| XM_011524854.1:c.1221+36_1221+37insAACACTAAG | XP_011523156.1:n.1221+36_1221+37insAACACTAAG | |
| XM_011524855.1:c.1221+36_1221+37insAACACTAAG | XP_011523157.1:n.1221+36_1221+37insAACACTAAG | |
| XM_011524856.1:c.1221+36_1221+37insAACACTAAG | XP_011523158.1:n.1221+36_1221+37insAACACTAAG | |
| XM_011524857.1:c.1260+36_1260+37insAACACTAAG | XP_011523159.1:n.1260+36_1260+37insAACACTAAG | |
| NM_001042492.3:c.1260+36_1260+37insAACACTAAG MANE Select | NP_001035957.1:n.1260+36_1260+37insAACACTAAG | |
| NM_001128147.3:c.1260+36_1260+37insAACACTAAG | NP_001121619.1:n.1260+36_1260+37insAACACTAAG |