Linked Data
dbSNP Id:
rs781945584
ExAC:
11:118897284 TCTC / T
gnomAD v2:
11-118897284-TCTC-T
gnomAD v4:
11-119026574-TCTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119026577_119026579del , CM000673.2:g.119026577_119026579del | GRCh38 |
| NC_000011.9:g.118897287_118897289del , CM000673.1:g.118897287_118897289del | GRCh37 |
| NC_000011.8:g.118402497_118402499del | NCBI36 |
| NG_013331.1:g.9329_9331del , LRG_187:g.9329_9331del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000529510.6:n.1014+360_1014+362del | ||
| ENST00000697845.1:n.1298_1300del | ||
| ENST00000697846.1:n.1014+360_1014+362del | ||
| ENST00000697847.1:n.1126_1128del | ||
| ENST00000697848.1:n.1100+26_1100+28del | ||
| ENST00000697849.1:n.2413_2415del | ||
| ENST00000697850.1:n.1100+26_1100+28del | ||
| ENST00000697851.1:n.2708+26_2708+28del | ||
| ENST00000638186.1:n.1174+26_1174+28del | ||
| ENST00000638360.1:n.1006+26_1006+28del | ||
| ENST00000638925.1:n.1133_1135del | ||
| ENST00000650539.1:n.1276+26_1276+28del | ||
| ENST00000330775.9:c.870+26_870+28del | ENSP00000476242.2:n.870+26_870+28del | |
| ENST00000357590.9:c.870+26_870+28del | ENSP00000476176.2:n.870+26_870+28del | |
| ENST00000524428.5:n.1106+360_1106+362del | ||
| ENST00000525039.5:n.1294+26_1294+28del | ||
| ENST00000525102.5:n.1628+26_1628+28del | ||
| ENST00000525372.5:n.897_899del | ||
| ENST00000526275.5:n.1652+26_1652+28del | ||
| ENST00000527992.5:n.1098+26_1098+28del | ||
| ENST00000529510.5:n.558+360_558+362del | ||
| ENST00000530407.5:n.1020+26_1020+28del | ||
| ENST00000532085.1:n.3755_3757del | ||
| ENST00000538950.5:c.651+26_651+28del | ENSP00000475991.2:n.651+26_651+28del | |
| ENST00000545985.5:c.870+26_870+28del | ENSP00000475241.2:n.870+26_870+28del | |
| NM_001164277.1:c.870+26_870+28del , LRG_187t1:c.870+26_870+28del | NP_001157749.1:n.870+26_870+28del | |
| NM_001164278.1:c.870+26_870+28del | NP_001157750.1:n.870+26_870+28del | |
| NM_001164279.1:c.651+26_651+28del | NP_001157751.1:n.651+26_651+28del | |
| NM_001164280.1:c.870+26_870+28del | NP_001157752.1:n.870+26_870+28del | |
| NM_001467.5:c.870+26_870+28del | NP_001458.1:n.870+26_870+28del | |
| NM_001164278.2:c.870+26_870+28del | NP_001157750.1:n.870+26_870+28del | |
| NM_001164279.2:c.651+26_651+28del | NP_001157751.1:n.651+26_651+28del | |
| NM_001164280.2:c.870+26_870+28del | NP_001157752.1:n.870+26_870+28del | |
| NM_001467.6:c.870+26_870+28del | NP_001458.1:n.870+26_870+28del | |
| NM_001164277.2:c.870+26_870+28del MANE Select | NP_001157749.1:n.870+26_870+28del |