Linked Data
dbSNP Id:
rs756472892
ExAC:
8:61773523 A / ATTCCTT
gnomAD v2:
8-61773523-A-ATTCCTT
gnomAD v4:
8-60860964-A-ATTCCTT
MyVariant Identifiers:
chr8:g.61773523_61773524insTTCCTT (hg19)
chr8:g.60860964_60860965insTTCCTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60860965_60860970dup , CM000670.2:g.60860965_60860970dup | GRCh38 |
| NC_000008.10:g.61773524_61773529dup , CM000670.1:g.61773524_61773529dup | GRCh37 |
| NC_000008.9:g.61936078_61936083dup | NCBI36 |
| NG_007009.1:g.187186_187191dup , LRG_176:g.187186_187191dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695850.1:n.846_851dup | ||
| ENST00000695851.1:n.50_55dup | ||
| ENST00000695853.1:c.*729_*734dup | ENSP00000512218.1:n.*729_*734dup | |
| ENST00000423902.7:c.7670_7675dup MANE Select | ENSP00000392028.1:p.Pro2558_Ser2559insPhePro | |
| ENST00000423902.6:c.7670_7675dup | ENSP00000392028.1:p.Pro2558_Ser2559insPhePro | |
| ENST00000524602.5:c.1717-1264_1717-1259dup | ENSP00000437061.1:n.1717-1264_1717-1259dup | |
| ENST00000531695.1:n.94_99dup | ||
| ENST00000618450.1:n.62_67dup | ||
| NM_001316690.1:c.1717-1264_1717-1259dup | NP_001303619.1:n.1717-1264_1717-1259dup | |
| NM_017780.3:c.7670_7675dup | NP_060250.2:p.Pro2558_Ser2559insPhePro | |
| XM_011517553.1:c.7760_7765dup | XP_011515855.1:p.Pro2588_Ser2589insPhePro | |
| XM_011517554.1:c.7760_7765dup | XP_011515856.1:p.Pro2588_Ser2589insPhePro | |
| XM_011517555.1:c.7757_7762dup | XP_011515857.1:p.Pro2587_Ser2588insPhePro | |
| XM_011517556.1:c.7699-1231_7699-1226dup | XP_011515858.1:n.7699-1231_7699-1226dup | |
| XM_011517557.1:c.5747_5752dup | XP_011515859.1:p.Pro1917_Ser1918insPhePro | |
| XM_011517558.1:c.5297_5302dup | XP_011515860.1:p.Pro1767_Ser1768insPhePro | |
| XM_011517559.1:c.4505_4510dup | XP_011515861.1:p.Pro1503_Ser1504insPhePro | |
| XM_011517553.2:c.7760_7765dup | XP_011515855.1:p.Pro2588_Ser2589insPhePro | |
| XM_011517554.3:c.7760_7765dup | XP_011515856.1:p.Pro2588_Ser2589insPhePro | |
| XM_011517555.2:c.7757_7762dup | XP_011515857.1:p.Pro2587_Ser2588insPhePro | |
| XM_017013612.1:c.7760_7765dup | XP_016869101.1:p.Pro2588_Ser2589insPhePro | |
| XM_017013613.1:c.7667_7672dup | XP_016869102.1:p.Pro2557_Ser2558insPhePro | |
| NM_017780.4:c.7670_7675dup MANE Select | NP_060250.2:p.Pro2558_Ser2559insPhePro |