Linked Data
dbSNP Id:
rs1462212359
gnomAD v2:
18-21485631-T-TAAAC
MyVariant Identifiers:
chr18:g.21485631_21485632insAAAC (hg19)
chr18:g.23905667_23905668insAAAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23905670_23905671insCAAA , CM000680.2:g.23905670_23905671insCAAA | GRCh38 |
| NC_000018.9:g.21485634_21485635insCAAA , CM000680.1:g.21485634_21485635insCAAA | GRCh37 |
| NC_000018.8:g.19739632_19739633insCAAA | NCBI36 |
| NG_007853.2:g.221073_221074insCAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269217.11:c.1891+46_1891+47insCAAA MANE Plus Clinical | ENSP00000269217.5:n.1891+46_1891+47insCAAA | |
| ENST00000313654.14:c.6718+46_6718+47insCAAA MANE Select | ENSP00000324532.8:n.6718+46_6718+47insCAAA | |
| ENST00000649721.1:c.3610+46_3610+47insCAAA | ENSP00000497885.1:n.3610+46_3610+47insCAAA | |
| ENST00000269217.10:c.1891+46_1891+47insCAAA | ENSP00000269217.5:n.1891+46_1891+47insCAAA | |
| ENST00000313654.13:c.6718+46_6718+47insCAAA | ENSP00000324532.8:n.6718+46_6718+47insCAAA | |
| ENST00000399516.7:c.6550+46_6550+47insCAAA | ENSP00000382432.2:n.6550+46_6550+47insCAAA | |
| ENST00000586751.5:c.1496+46_1496+47insCAAA | ||
| ENST00000587184.5:c.1723+46_1723+47insCAAA | ENSP00000466557.1:n.1723+46_1723+47insCAAA | |
| ENST00000588770.5:n.1296+46_1296+47insCAAA | ||
| NM_000227.4:c.1891+46_1891+47insCAAA | NP_000218.3:n.1891+46_1891+47insCAAA | |
| NM_001127717.2:c.6550+46_6550+47insCAAA | NP_001121189.2:n.6550+46_6550+47insCAAA | |
| NM_001127718.2:c.1723+46_1723+47insCAAA | NP_001121190.2:n.1723+46_1723+47insCAAA | |
| NM_198129.2:c.6718+46_6718+47insCAAA | NP_937762.2:n.6718+46_6718+47insCAAA | |
| XM_011525978.1:c.6745+46_6745+47insCAAA | XP_011524280.1:n.6745+46_6745+47insCAAA | |
| XM_011525979.1:c.6736+46_6736+47insCAAA | XP_011524281.1:n.6736+46_6736+47insCAAA | |
| XM_011525980.1:c.6727+46_6727+47insCAAA | XP_011524282.1:n.6727+46_6727+47insCAAA | |
| XM_011525981.1:c.6613+46_6613+47insCAAA | XP_011524283.1:n.6613+46_6613+47insCAAA | |
| XM_011525982.1:c.6745+46_6745+47insCAAA | XP_011524284.1:n.6745+46_6745+47insCAAA | |
| XM_011525978.2:c.6745+46_6745+47insCAAA | XP_011524280.1:n.6745+46_6745+47insCAAA | |
| XM_011525979.2:c.6736+46_6736+47insCAAA | XP_011524281.1:n.6736+46_6736+47insCAAA | |
| XM_011525980.2:c.6727+46_6727+47insCAAA | XP_011524282.1:n.6727+46_6727+47insCAAA | |
| XM_011525981.2:c.6613+46_6613+47insCAAA | XP_011524283.1:n.6613+46_6613+47insCAAA | |
| XM_011525982.2:c.6745+46_6745+47insCAAA | XP_011524284.1:n.6745+46_6745+47insCAAA | |
| XM_017025743.1:c.4597+46_4597+47insCAAA | XP_016881232.1:n.4597+46_4597+47insCAAA | |
| XM_017025744.1:c.2287+46_2287+47insCAAA | XP_016881233.1:n.2287+46_2287+47insCAAA | |
| XR_001753199.1:n.6986+46_6986+47insCAAA | ||
| NM_000227.5:c.1891+46_1891+47insCAAA | NP_000218.3:n.1891+46_1891+47insCAAA | |
| NM_001127717.3:c.6550+46_6550+47insCAAA | NP_001121189.2:n.6550+46_6550+47insCAAA | |
| NM_001127718.3:c.1723+46_1723+47insCAAA | NP_001121190.2:n.1723+46_1723+47insCAAA | |
| NM_198129.3:c.6718+46_6718+47insCAAA | NP_937762.2:n.6718+46_6718+47insCAAA | |
| NM_000227.6:c.1891+46_1891+47insCAAA MANE Plus Clinical | NP_000218.3:n.1891+46_1891+47insCAAA | |
| NM_001127717.4:c.6550+46_6550+47insCAAA | NP_001121189.2:n.6550+46_6550+47insCAAA | |
| NM_001127718.4:c.1723+46_1723+47insCAAA | NP_001121190.2:n.1723+46_1723+47insCAAA | |
| NM_198129.4:c.6718+46_6718+47insCAAA MANE Select | NP_937762.2:n.6718+46_6718+47insCAAA |