Linked Data
dbSNP Id:
rs1469735067
gnomAD v2:
10-89720652-A-ATTTT
gnomAD v3:
10-87960895-A-ATTTT
gnomAD v4:
10-87960895-A-ATTTT
MyVariant Identifiers:
chr10:g.89720652_89720653insTTTT (hg19)
chr10:g.87960895_87960896insTTTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87960895_87960896insTTTT , CM000672.2:g.87960895_87960896insTTTT | GRCh38 |
| NC_000010.10:g.89720652_89720653insTTTT , CM000672.1:g.89720652_89720653insTTTT | GRCh37 |
| NC_000010.9:g.89710632_89710633insTTTT | NCBI36 |
| NG_007466.2:g.102457_102458insTTTT , LRG_311:g.102457_102458insTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.896_897insTTTT | ENSP00000514759.2:p.Lys300PhefsTer30 | |
| ENST00000710265.1:c.803_804insTTTT | ENSP00000518161.1:p.Lys269PhefsTer30 | |
| ENST00000472832.3:c.803_804insTTTT | ENSP00000483066.2:p.Lys269PhefsTer30 | |
| ENST00000688158.2:n.1538_1539insTTTT | ||
| ENST00000688922.2:c.*633_*634insTTTT | ENSP00000508742.2:n.*633_*634insTTTT | |
| ENST00000700021.1:c.758_759insTTTT | ENSP00000514757.1:p.Lys254PhefsTer30 | |
| ENST00000700022.1:c.*142_*143insTTTT | ENSP00000514758.1:n.*142_*143insTTTT | |
| ENST00000700023.1:n.1961_1962insTTTT | ||
| ENST00000700024.1:n.2195_2196insTTTT | ||
| ENST00000700025.1:n.1572_1573insTTTT | ||
| ENST00000700026.1:n.440_441insTTTT | ||
| ENST00000700029.1:c.730_731insTTTT | ||
| ENST00000706954.1:c.803_804insTTTT | ENSP00000516674.1:p.Lys269PhefsTer30 | |
| ENST00000706955.1:c.*838_*839insTTTT | ENSP00000516675.1:n.*838_*839insTTTT | |
| ENST00000686459.1:c.*389_*390insTTTT | ENSP00000508909.1:n.*389_*390insTTTT | |
| ENST00000688158.1:c.*914_*915insTTTT | ENSP00000509254.1:n.*914_*915insTTTT | |
| ENST00000688308.1:c.803_804insTTTT | ENSP00000508752.1:p.Lys269PhefsTer30 | |
| ENST00000688922.1:c.724_725insTTTT | ||
| ENST00000693560.1:c.1322_1323insTTTT | ENSP00000509861.1:p.Lys442PhefsTer30 | |
| ENST00000371953.8:c.803_804insTTTT MANE Select | ENSP00000361021.3:p.Lys269PhefsTer30 | |
| ENST00000371953.7:c.803_804insTTTT | ENSP00000361021.3:p.Lys269PhefsTer30 | |
| ENST00000472832.2:c.230_231insTTTT | ENSP00000483066.1:p.Lys78PhefsTer30 | |
| NM_000314.5:c.803_804insTTTT | NP_000305.3:p.Lys269PhefsTer30 | |
| NM_000314.6:c.803_804insTTTT | NP_000305.3:p.Lys269PhefsTer30 | |
| NM_001304717.2:c.1322_1323insTTTT | NP_001291646.2:p.Lys442PhefsTer30 | |
| NM_001304718.1:c.212_213insTTTT | NP_001291647.1:p.Lys72PhefsTer30 | |
| XM_006717926.2:c.758_759insTTTT | XP_006717989.1:p.Lys254PhefsTer30 | |
| XM_011539981.1:c.803_804insTTTT | XP_011538283.1:p.Lys269PhefsTer30 | |
| XM_011539982.1:c.707_708insTTTT | XP_011538284.1:p.Lys237PhefsTer30 | |
| XR_945791.1:n.1373_1374insTTTT | ||
| NM_000314.7:c.803_804insTTTT | NP_000305.3:p.Lys269PhefsTer30 | |
| NM_001304717.5:c.1322_1323insTTTT | NP_001291646.4:p.Lys442PhefsTer30 | |
| NM_001304718.2:c.212_213insTTTT | NP_001291647.1:p.Lys72PhefsTer30 | |
| NM_000314.8:c.803_804insTTTT MANE Select | NP_000305.3:p.Lys269PhefsTer30 |