Linked Data
dbSNP Id:
rs1179902793
gnomAD v2:
15-63355035-C-CTAGT
gnomAD v4:
15-63062836-C-CTAGT
MyVariant Identifiers:
chr15:g.63355035_63355036insTAGT (hg19)
chr15:g.63062836_63062837insTAGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.63062840_63062843dup , CM000677.2:g.63062840_63062843dup | GRCh38 |
| NC_000015.9:g.63355039_63355042dup , CM000677.1:g.63355039_63355042dup | GRCh37 |
| NC_000015.8:g.61142092_61142095dup | NCBI36 |
| NG_007557.1:g.25202_25205dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558868.6:n.1555+195_1555+198dup | ||
| ENST00000559831.6:c.*191+195_*191+198dup | ENSP00000452977.2:n.*191+195_*191+198dup | |
| ENST00000560131.2:n.1115_1118dup | ||
| ENST00000560615.6:c.394+195_394+198dup | ENSP00000453050.2:n.394+195_394+198dup | |
| ENST00000561395.6:c.*191+195_*191+198dup | ENSP00000453092.2:n.*191+195_*191+198dup | |
| ENST00000651622.2:c.664+195_664+198dup | ENSP00000498540.2:n.664+195_664+198dup | |
| ENST00000705544.1:c.459+195_459+198dup | ||
| ENST00000317516.12:c.664+195_664+198dup | ENSP00000322577.7:n.664+195_664+198dup | |
| ENST00000334895.10:c.664+195_664+198dup | ENSP00000334624.4:n.664+195_664+198dup | |
| ENST00000357980.9:c.898+195_898+198dup | ENSP00000350667.4:n.898+195_898+198dup | |
| ENST00000403994.9:c.772+195_772+198dup MANE Select | ENSP00000385107.4:n.772+195_772+198dup | |
| ENST00000404484.9:c.664+195_664+198dup | ENSP00000384315.4:n.664+195_664+198dup | |
| ENST00000558910.3:c.664+195_664+198dup | ENSP00000452830.2:n.664+195_664+198dup | |
| ENST00000559281.6:c.664+195_664+198dup | ENSP00000452658.1:n.664+195_664+198dup | |
| ENST00000559397.6:c.772+195_772+198dup | ENSP00000452879.1:n.772+195_772+198dup | |
| ENST00000560970.6:c.772+195_772+198dup | ENSP00000453062.2:n.772+195_772+198dup | |
| ENST00000561266.6:c.772+195_772+198dup | ENSP00000453955.2:n.772+195_772+198dup | |
| ENST00000644204.1:n.794+195_794+198dup | ||
| ENST00000651344.1:n.1288+195_1288+198dup | ||
| ENST00000651577.1:c.394+195_394+198dup | ENSP00000498730.1:n.394+195_394+198dup | |
| ENST00000651590.1:c.664+195_664+198dup | ENSP00000498284.1:n.664+195_664+198dup | |
| ENST00000651622.1:c.104+195_104+198dup | ||
| ENST00000651704.1:c.394+195_394+198dup | ENSP00000498562.1:n.394+195_394+198dup | |
| ENST00000267996.11:c.772+195_772+198dup | ENSP00000267996.7:n.772+195_772+198dup | |
| ENST00000288398.10:c.772+195_772+198dup | ENSP00000288398.6:n.772+195_772+198dup | |
| ENST00000317516.11:c.664+195_664+198dup | ENSP00000322577.7:n.664+195_664+198dup | |
| ENST00000334895.9:c.664+195_664+198dup | ENSP00000334624.4:n.664+195_664+198dup | |
| ENST00000357980.8:c.898+195_898+198dup | ENSP00000350667.4:n.898+195_898+198dup | |
| ENST00000358278.7:c.772+195_772+198dup | ENSP00000351022.3:n.772+195_772+198dup | |
| ENST00000403994.7:c.772+195_772+198dup | ENSP00000385107.3:n.772+195_772+198dup | |
| ENST00000404484.8:c.664+195_664+198dup | ENSP00000384315.4:n.664+195_664+198dup | |
| ENST00000558072.5:n.291+195_291+198dup | ||
| ENST00000558264.5:c.*191+195_*191+198dup | ENSP00000452624.1:n.*191+195_*191+198dup | |
| ENST00000558347.5:c.*180+195_*180+198dup | ENSP00000452887.1:n.*180+195_*180+198dup | |
| ENST00000558544.5:c.*380+195_*380+198dup | ENSP00000453817.1:n.*380+195_*380+198dup | |
| ENST00000558910.2:c.17+195_17+198dup | ||
| ENST00000559108.1:n.240+195_240+198dup | ||
| ENST00000559281.5:c.664+195_664+198dup | ENSP00000452658.1:n.664+195_664+198dup | |
| ENST00000559397.5:c.772+195_772+198dup | ENSP00000452879.1:n.772+195_772+198dup | |
| ENST00000559556.5:c.772+195_772+198dup | ENSP00000453941.1:n.772+195_772+198dup | |
| ENST00000560445.1:c.187-3121_187-3118dup | ENSP00000452999.1:n.187-3121_187-3118dup | |
| ENST00000560959.5:c.*31_*34dup | ENSP00000453724.1:n.*31_*34dup | |
| ENST00000560970.5:c.714+195_714+198dup | ||
| ENST00000560975.5:n.2621+195_2621+198dup | ||
| ENST00000561266.5:c.588+195_588+198dup | ||
| ENST00000561395.5:c.398+195_398+198dup | ENSP00000453092.1:n.398+195_398+198dup | |
| NM_000366.5:c.772+195_772+198dup | NP_000357.3:n.772+195_772+198dup | |
| NM_001018004.1:c.772+195_772+198dup | NP_001018004.1:n.772+195_772+198dup | |
| NM_001018005.1:c.772+195_772+198dup | NP_001018005.1:n.772+195_772+198dup | |
| NM_001018006.1:c.772+195_772+198dup | NP_001018006.1:n.772+195_772+198dup | |
| NM_001018007.1:c.772+195_772+198dup | NP_001018007.1:n.772+195_772+198dup | |
| NM_001018008.1:c.664+195_664+198dup | NP_001018008.1:n.664+195_664+198dup | |
| NM_001018020.1:c.772+195_772+198dup | NP_001018020.1:n.772+195_772+198dup | |
| NM_001301244.1:c.772+195_772+198dup | NP_001288173.1:n.772+195_772+198dup | |
| NM_001301289.1:c.664+195_664+198dup | NP_001288218.1:n.664+195_664+198dup | |
| XM_005254637.1:c.898+195_898+198dup | XP_005254694.1:n.898+195_898+198dup | |
| XM_005254638.2:c.772+195_772+198dup | XP_005254695.1:n.772+195_772+198dup | |
| XM_005254639.2:c.772+195_772+198dup | XP_005254696.1:n.772+195_772+198dup | |
| XM_005254640.2:c.772+195_772+198dup | XP_005254697.1:n.772+195_772+198dup | |
| XM_005254641.2:c.772+195_772+198dup | XP_005254698.1:n.772+195_772+198dup | |
| XM_005254645.1:c.772+195_772+198dup | XP_005254702.1:n.772+195_772+198dup | |
| XM_005254646.1:c.*31_*34dup | XP_005254703.1:n.*31_*34dup | |
| XM_005254647.2:c.664+195_664+198dup | XP_005254704.1:n.664+195_664+198dup | |
| XM_005254648.1:c.664+195_664+198dup | XP_005254705.1:n.664+195_664+198dup | |
| XM_005254650.2:c.664+195_664+198dup | XP_005254707.1:n.664+195_664+198dup | |
| XM_005254651.1:c.664+195_664+198dup | XP_005254708.1:n.664+195_664+198dup | |
| XM_005254652.1:c.664+195_664+198dup | XP_005254709.1:n.664+195_664+198dup | |
| XM_005254653.1:c.664+195_664+198dup | XP_005254710.1:n.664+195_664+198dup | |
| XM_006720667.2:c.772+195_772+198dup | XP_006720730.1:n.772+195_772+198dup | |
| XM_006720669.2:c.394+195_394+198dup | XP_006720732.1:n.394+195_394+198dup | |
| NM_001330344.1:c.664+195_664+198dup | NP_001317273.1:n.664+195_664+198dup | |
| NM_001330346.1:c.664+195_664+198dup | NP_001317275.1:n.664+195_664+198dup | |
| NM_001330351.1:c.664+195_664+198dup | NP_001317280.1:n.664+195_664+198dup | |
| NM_001365776.1:c.772+195_772+198dup | NP_001352705.1:n.772+195_772+198dup | |
| NM_001365777.1:c.772+195_772+198dup | NP_001352706.1:n.772+195_772+198dup | |
| NM_001365778.1:c.898+195_898+198dup | NP_001352707.1:n.898+195_898+198dup | |
| NM_001365779.1:c.772+195_772+198dup | NP_001352708.1:n.772+195_772+198dup | |
| NM_001365780.1:c.664+195_664+198dup | NP_001352709.1:n.664+195_664+198dup | |
| NM_001365781.1:c.664+195_664+198dup | NP_001352710.1:n.664+195_664+198dup | |
| NM_001365782.1:c.664+195_664+198dup | NP_001352711.1:n.664+195_664+198dup | |
| XM_005254639.4:c.772+195_772+198dup | XP_005254696.3:n.772+195_772+198dup | |
| XM_005254646.2:c.*31_*34dup | XP_005254703.1:n.*31_*34dup | |
| XM_005254650.3:c.664+195_664+198dup | XP_005254707.1:n.664+195_664+198dup | |
| XM_006720667.4:c.772+195_772+198dup | XP_006720730.3:n.772+195_772+198dup | |
| XM_017022534.2:c.*31_*34dup | XP_016878023.2:n.*31_*34dup | |
| XM_017022535.2:c.*31_*34dup | XP_016878024.1:n.*31_*34dup | |
| XM_017022536.2:c.*31_*34dup | XP_016878025.2:n.*31_*34dup | |
| XM_017022537.2:c.*31_*34dup | XP_016878026.1:n.*31_*34dup | |
| XM_017022538.2:c.772+195_772+198dup | XP_016878027.2:n.772+195_772+198dup | |
| XM_017022539.2:c.772+195_772+198dup | XP_016878028.2:n.772+195_772+198dup | |
| XM_017022540.1:c.*31_*34dup | XP_016878029.1:n.*31_*34dup | |
| XM_024450040.1:c.*31_*34dup | XP_024305808.1:n.*31_*34dup | |
| XR_002957675.1:n.1730+195_1730+198dup | ||
| NM_000366.6:c.772+195_772+198dup | NP_000357.3:n.772+195_772+198dup | |
| NM_001018004.2:c.772+195_772+198dup | NP_001018004.1:n.772+195_772+198dup | |
| NM_001018005.2:c.772+195_772+198dup MANE Select | NP_001018005.1:n.772+195_772+198dup | |
| NM_001018006.2:c.772+195_772+198dup | NP_001018006.1:n.772+195_772+198dup | |
| NM_001018007.2:c.772+195_772+198dup | NP_001018007.1:n.772+195_772+198dup | |
| NM_001018008.2:c.664+195_664+198dup | NP_001018008.1:n.664+195_664+198dup | |
| NM_001018020.2:c.772+195_772+198dup | NP_001018020.1:n.772+195_772+198dup | |
| NM_001301244.2:c.772+195_772+198dup | NP_001288173.1:n.772+195_772+198dup | |
| NM_001301289.2:c.664+195_664+198dup | NP_001288218.1:n.664+195_664+198dup | |
| NM_001330344.2:c.664+195_664+198dup | NP_001317273.1:n.664+195_664+198dup | |
| NM_001330346.2:c.664+195_664+198dup | NP_001317275.1:n.664+195_664+198dup | |
| NM_001330351.2:c.664+195_664+198dup | NP_001317280.1:n.664+195_664+198dup | |
| NM_001365781.2:c.664+195_664+198dup | NP_001352710.1:n.664+195_664+198dup |