Linked Data
ClinVar Variation Id:
1759302
ClinVar RCV Id:
RCV002393802
dbSNP Id:
rs747729720
ExAC:
X:31792099 T / TTGA
gnomAD v2:
X-31792099-T-TTGA
gnomAD v3:
X-31773982-T-TTGA
gnomAD v4:
X-31773982-T-TTGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31773984_31773986dup , CM000685.2:g.31773984_31773986dup | GRCh38 |
| NC_000023.10:g.31792101_31792103dup , CM000685.1:g.31792101_31792103dup | GRCh37 |
| NC_000023.9:g.31702022_31702024dup | NCBI36 |
| NG_012232.1:g.1570625_1570627dup , LRG_199:g.1570625_1570627dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.2363_2365dup | ENSP00000350765.3:p.Ile788_Asn789insIle | |
| ENST00000682238.1:c.137_139dup | ENSP00000508124.1:p.Ile46_Asn47insIle | |
| ENST00000683117.1:n.1178_1180dup | ||
| ENST00000683450.1:n.1100_1102dup | ||
| ENST00000683851.1:n.1178_1180dup | ||
| ENST00000683957.1:n.1009_1011dup | ||
| ENST00000684130.1:c.137_139dup | ENSP00000508037.1:p.Ile46_Asn47insIle | |
| ENST00000357033.9:c.7517_7519dup MANE Select | ENSP00000354923.3:p.Ile2506_Asn2507insIle | |
| ENST00000619831.5:c.3485_3487dup | ENSP00000479270.2:p.Ile1162_Asn1163insIle | |
| ENST00000620040.5:c.137_139dup | ENSP00000478150.2:p.Ile46_Asn47insIle | |
| ENST00000680961.1:c.137_139dup | ENSP00000506386.1:p.Ile46_Asn47insIle | |
| ENST00000681646.1:n.1178_1180dup | ||
| ENST00000681839.1:c.506_508dup | ENSP00000505228.1:p.Ile169_Asn170insIle | |
| ENST00000357033.8:c.7517_7519dup | ENSP00000354923.3:p.Ile2506_Asn2507insIle | |
| ENST00000358062.6:c.605_607dup | ENSP00000350765.2:p.Ile202_Asn203insIle | |
| ENST00000359836.5:c.137_139dup | ENSP00000352894.1:p.Ile46_Asn47insIle | |
| ENST00000378677.6:c.7505_7507dup | ENSP00000367948.2:p.Ile2502_Asn2503insIle | |
| ENST00000378707.7:c.137_139dup | ENSP00000367979.3:p.Ile46_Asn47insIle | |
| ENST00000471779.1:c.274_276dup | ENSP00000417075.1:n.274_276dup | |
| ENST00000474231.5:c.137_139dup | ENSP00000417123.1:p.Ile46_Asn47insIle | |
| ENST00000541735.5:c.137_139dup | ENSP00000444119.1:p.Ile46_Asn47insIle | |
| ENST00000619831.4:c.7502_7504dup | ENSP00000479270.1:p.Ile2501_Asn2502insIle | |
| ENST00000620040.4:c.7514_7516dup | ENSP00000478150.1:p.Ile2505_Asn2506insIle | |
| NM_000109.3:c.7493_7495dup | NP_000100.2:p.Ile2498_Asn2499insIle | |
| NM_004006.2:c.7517_7519dup , LRG_199t1:c.7517_7519dup | NP_003997.1:p.Ile2506_Asn2507insIle | |
| NM_004009.3:c.7505_7507dup | NP_004000.1:p.Ile2502_Asn2503insIle | |
| NM_004010.3:c.7148_7150dup | NP_004001.1:p.Ile2383_Asn2384insIle | |
| NM_004011.3:c.3494_3496dup | NP_004002.2:p.Ile1165_Asn1166insIle | |
| NM_004012.3:c.3485_3487dup | NP_004003.1:p.Ile1162_Asn1163insIle | |
| NM_004013.2:c.137_139dup | NP_004004.1:p.Ile46_Asn47insIle | |
| NM_004020.3:c.137_139dup | NP_004011.2:p.Ile46_Asn47insIle | |
| NM_004021.2:c.137_139dup | NP_004012.1:p.Ile46_Asn47insIle | |
| NM_004022.2:c.137_139dup | NP_004013.1:p.Ile46_Asn47insIle | |
| NM_004023.2:c.137_139dup | NP_004014.1:p.Ile46_Asn47insIle | |
| XM_006724468.2:c.7517_7519dup | XP_006724531.1:p.Ile2506_Asn2507insIle | |
| XM_006724469.2:c.7493_7495dup | XP_006724532.1:p.Ile2498_Asn2499insIle | |
| XM_006724470.2:c.7517_7519dup | XP_006724533.1:p.Ile2506_Asn2507insIle | |
| XM_006724471.2:c.7517_7519dup | XP_006724534.1:p.Ile2506_Asn2507insIle | |
| XM_006724472.2:c.7388_7390dup | XP_006724535.1:p.Ile2463_Asn2464insIle | |
| XM_006724473.2:c.7379_7381dup | XP_006724536.1:p.Ile2460_Asn2461insIle | |
| XM_006724474.2:c.7517_7519dup | XP_006724537.1:p.Ile2506_Asn2507insIle | |
| XM_006724475.2:c.7517_7519dup | XP_006724538.1:p.Ile2506_Asn2507insIle | |
| XM_011545467.1:c.7394_7396dup | XP_011543769.1:p.Ile2465_Asn2466insIle | |
| XM_011545468.1:c.7517_7519dup | XP_011543770.1:p.Ile2506_Asn2507insIle | |
| XM_006724469.3:c.7493_7495dup | XP_006724532.1:p.Ile2498_Asn2499insIle | |
| XM_006724470.3:c.7517_7519dup | XP_006724533.1:p.Ile2506_Asn2507insIle | |
| XM_006724474.3:c.7517_7519dup | XP_006724537.1:p.Ile2506_Asn2507insIle | |
| XM_011545468.2:c.7517_7519dup | XP_011543770.1:p.Ile2506_Asn2507insIle | |
| XM_017029328.1:c.7517_7519dup | XP_016884817.1:p.Ile2506_Asn2507insIle | |
| XM_017029331.1:c.1691_1693dup | XP_016884820.1:p.Ile564_Asn565insIle | |
| NM_000109.4:c.7493_7495dup | NP_000100.3:p.Ile2498_Asn2499insIle | |
| NM_004006.3:c.7517_7519dup MANE Select | NP_003997.2:p.Ile2506_Asn2507insIle | |
| NM_004011.4:c.3494_3496dup | NP_004002.3:p.Ile1165_Asn1166insIle | |
| NM_004012.4:c.3485_3487dup | NP_004003.2:p.Ile1162_Asn1163insIle | |
| NM_004021.3:c.137_139dup | NP_004012.2:p.Ile46_Asn47insIle | |
| NM_004023.3:c.137_139dup | NP_004014.2:p.Ile46_Asn47insIle | |
| NM_004013.3:c.137_139dup | NP_004004.2:p.Ile46_Asn47insIle | |
| NM_004020.4:c.137_139dup | NP_004011.3:p.Ile46_Asn47insIle | |
| NM_004022.3:c.137_139dup | NP_004013.2:p.Ile46_Asn47insIle |