Linked Data
dbSNP Id:
rs1270615881
gnomAD v3:
15-77032641-G-GCCCCCACTC
gnomAD v4:
15-77032641-G-GCCCCCACTC
MyVariant Identifiers:
chr15:g.77324982_77324983insCCCCCACTC (hg19)
chr15:g.77032641_77032642insCCCCCACTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.77032645_77032653dup , CM000677.2:g.77032645_77032653dup | GRCh38 |
| NC_000015.9:g.77324986_77324994dup , CM000677.1:g.77324986_77324994dup | GRCh37 |
| NC_000015.8:g.75112041_75112049dup | NCBI36 |
| NG_007526.1:g.42522_42530dup , LRG_172:g.42522_42530dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697622.1:n.1788_1796dup | ||
| ENST00000697623.1:n.2258-217_2258-209dup | ||
| ENST00000558012.6:c.839-217_839-209dup MANE Select | ENSP00000452746.1:n.839-217_839-209dup | |
| ENST00000379595.7:c.839-217_839-209dup | ENSP00000368914.3:n.839-217_839-209dup | |
| ENST00000557995.1:n.503-217_503-209dup | ||
| ENST00000558012.5:c.839-217_839-209dup | ENSP00000452746.1:n.839-217_839-209dup | |
| ENST00000558870.1:c.78+251_78+259dup | ||
| ENST00000559295.5:c.872+217_872+225dup | ENSP00000452743.1:n.872+217_872+225dup | |
| ENST00000559785.5:c.1068-217_1068-209dup | ENSP00000452986.1:n.1068-217_1068-209dup | |
| ENST00000560223.5:c.*941-217_*941-209dup | ENSP00000454118.1:n.*941-217_*941-209dup | |
| ENST00000560377.5:n.1330_1338dup | ||
| NM_003978.3:c.839-217_839-209dup , LRG_172t1:c.839-217_839-209dup | NP_003969.2:n.839-217_839-209dup | |
| XM_006720737.2:c.473-217_473-209dup | XP_006720800.1:n.473-217_473-209dup | |
| XM_011522163.1:c.896-217_896-209dup | XP_011520465.1:n.896-217_896-209dup | |
| XM_011522164.1:c.794-217_794-209dup | XP_011520466.1:n.794-217_794-209dup | |
| XM_011522165.1:c.692-217_692-209dup | XP_011520467.1:n.692-217_692-209dup | |
| XM_011522166.1:c.930-217_930-209dup | XP_011520468.1:n.930-217_930-209dup | |
| XM_011522167.1:c.895+251_895+259dup | XP_011520469.1:n.895+251_895+259dup | |
| XM_011522168.1:c.896-217_896-209dup | XP_011520470.1:n.896-217_896-209dup | |
| XM_011522169.1:c.798+1367_798+1375dup | XP_011520471.1:n.798+1367_798+1375dup | |
| XM_011522170.1:c.372-2863_372-2855dup | XP_011520472.1:n.372-2863_372-2855dup | |
| XM_011522171.1:c.312-2863_312-2855dup | XP_011520473.1:n.312-2863_312-2855dup | |
| XM_011522172.1:c.312-2863_312-2855dup | XP_011520474.1:n.312-2863_312-2855dup | |
| XM_011522173.1:c.312-2863_312-2855dup | XP_011520475.1:n.312-2863_312-2855dup | |
| XR_931936.1:n.1380-217_1380-209dup | ||
| XR_931937.1:n.1323-217_1323-209dup | ||
| XR_931938.1:n.1345+251_1345+259dup | ||
| XR_931939.1:n.1248+1367_1248+1375dup | ||
| XR_931940.1:n.1070-2863_1070-2855dup | ||
| NM_001321135.1:c.872+217_872+225dup | NP_001308064.1:n.872+217_872+225dup | |
| NM_001321136.1:c.812-217_812-209dup | NP_001308065.1:n.812-217_812-209dup | |
| NM_001321137.1:c.1034-217_1034-209dup | NP_001308066.1:n.1034-217_1034-209dup | |
| NM_003978.4:c.839-217_839-209dup | NP_003969.2:n.839-217_839-209dup | |
| NR_135552.1:n.1150+1367_1150+1375dup | ||
| XM_006720737.3:c.473-217_473-209dup | XP_006720800.1:n.473-217_473-209dup | |
| XM_011522163.2:c.896-217_896-209dup | XP_011520465.1:n.896-217_896-209dup | |
| XM_011522165.2:c.692-217_692-209dup | XP_011520467.1:n.692-217_692-209dup | |
| XM_011522166.2:c.930-217_930-209dup | XP_011520468.1:n.930-217_930-209dup | |
| XM_011522167.2:c.895+251_895+259dup | XP_011520469.1:n.895+251_895+259dup | |
| XM_011522168.3:c.896-217_896-209dup | XP_011520470.1:n.896-217_896-209dup | |
| XM_011522169.2:c.798+1367_798+1375dup | XP_011520471.1:n.798+1367_798+1375dup | |
| XR_931936.2:n.1378-217_1378-209dup | ||
| XR_931937.2:n.1321-217_1321-209dup | ||
| XR_931938.2:n.1343+251_1343+259dup | ||
| XR_931939.2:n.1246+1367_1246+1375dup | ||
| NM_001321135.2:c.872+217_872+225dup | NP_001308064.1:n.872+217_872+225dup | |
| NM_001321136.2:c.812-217_812-209dup | NP_001308065.1:n.812-217_812-209dup | |
| NM_003978.5:c.839-217_839-209dup MANE Select | NP_003969.2:n.839-217_839-209dup | |
| NR_135552.2:n.1109+1367_1109+1375dup |