Linked Data
ClinVar Variation Id:
372506
dbSNP Id:
rs896634334
gnomAD v2:
5-131726404-T-TTTGGGC
gnomAD v3:
5-132390712-T-TTTGGGC
gnomAD v4:
5-132390712-T-TTTGGGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132390715_132390720dup , CM000667.2:g.132390715_132390720dup | GRCh38 |
| NC_000005.9:g.131726407_131726412dup , CM000667.1:g.131726407_131726412dup | GRCh37 |
| NC_000005.8:g.131754306_131754311dup | NCBI36 |
| NG_008982.1:g.26007_26012dup | |
| NG_008982.2:g.26012_26017dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.919_924dup | ENSP00000388838.2:p.Leu308_Ser309insGlyLeu | |
| ENST00000435065.7:c.1150_1155dup | ENSP00000402760.2:p.Leu385_Ser386insGlyLeu | |
| ENST00000448810.6:c.1053-61_1053-56dup | ENSP00000401860.2:n.1053-61_1053-56dup | |
| ENST00000685543.1:n.1219_1224dup | ||
| ENST00000686757.1:c.*242_*247dup | ENSP00000510721.1:n.*242_*247dup | |
| ENST00000687740.1:n.3763_3768dup | ||
| ENST00000688151.1:n.2388_2393dup | ||
| ENST00000689271.1:c.925_930dup | ENSP00000510797.1:p.Leu310_Ser311insGlyLeu | |
| ENST00000690900.1:c.*242_*247dup | ENSP00000510703.1:n.*242_*247dup | |
| ENST00000692212.1:n.2690_2695dup | ||
| ENST00000692355.1:c.331_336dup | ||
| ENST00000692413.1:c.1060_1065dup | ENSP00000509374.1:p.Leu355_Ser356insGlyLeu | |
| ENST00000692825.1:c.1146_1151dup | ENSP00000509447.1:n.1146_1151dup | |
| ENST00000693308.1:c.1126_1131dup | ENSP00000509770.1:p.Leu377_Ser378insGlyLeu | |
| ENST00000693763.1:n.2238_2243dup | ||
| ENST00000245407.8:c.1078_1083dup MANE Select | ENSP00000245407.3:p.Leu361_Ser362insGlyLeu | |
| ENST00000245407.7:c.1078_1083dup | ENSP00000245407.3:p.Leu361_Ser362insGlyLeu | |
| ENST00000435065.6:c.1150_1155dup | ENSP00000402760.2:p.Leu385_Ser386insGlyLeu | |
| ENST00000447841.5:c.111+1694_111+1699dup | ||
| ENST00000448810.5:c.401-61_401-56dup | ||
| ENST00000461013.5:n.8500_8505dup | ||
| ENST00000475308.1:n.1756_1761dup | ||
| ENST00000479605.5:n.181_186dup | ||
| NM_001308122.1:c.1150_1155dup | NP_001295051.1:p.Leu385_Ser386insGlyLeu | |
| NM_003060.3:c.1078_1083dup | NP_003051.1:p.Leu361_Ser362insGlyLeu | |
| XM_011543590.1:c.460_465dup | XP_011541892.1:p.Leu155_Ser156insGlyLeu | |
| XR_427718.1:n.1438_1443dup | ||
| XR_948290.1:n.1393+1694_1393+1699dup | ||
| XR_948291.1:n.1432_1437dup | ||
| XM_011543590.2:c.460_465dup | XP_011541892.1:p.Leu155_Ser156insGlyLeu | |
| XM_017009778.2:c.550_555dup | XP_016865267.1:p.Leu185_Ser186insGlyLeu | |
| XR_001742215.1:n.1394-61_1394-56dup | ||
| XR_001742216.1:n.1413-61_1413-56dup | ||
| XR_427718.2:n.1438_1443dup | ||
| XR_948290.2:n.1393+1694_1393+1699dup | ||
| XR_948291.2:n.1432_1437dup | ||
| NM_003060.4:c.1078_1083dup MANE Select | NP_003051.1:p.Leu361_Ser362insGlyLeu | |
| NM_001308122.2:c.1150_1155dup | NP_001295051.1:p.Leu385_Ser386insGlyLeu |