Linked Data
dbSNP Id:
rs930059107
gnomAD v2:
5-86681514-CACAA-C
gnomAD v3:
5-87385697-CACAA-C
gnomAD v4:
5-87385697-CACAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.87385701_87385704del , CM000667.2:g.87385701_87385704del | GRCh38 |
| NC_000005.9:g.86681518_86681521del , CM000667.1:g.86681518_86681521del | GRCh37 |
| NC_000005.8:g.86717274_86717277del | NCBI36 |
| NG_011650.1:g.122368_122371del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274376.11:c.2847+312_2847+315del (RASA1) MANE Select | ENSP00000274376.6:n.2847+312_2847+315del | |
| ENST00000645953.1:c.*90+7069_*90+7072del (CCNH) | ENSP00000494460.1:n.*90+7069_*90+7072del | |
| ENST00000646883.1:c.254+7069_254+7072del (CCNH) | ||
| ENST00000274376.10:c.2847+312_2847+315del (RASA1) | ENSP00000274376.6:n.2847+312_2847+315del | |
| ENST00000456692.6:c.2316+312_2316+315del (RASA1) | ENSP00000411221.2:n.2316+312_2316+315del | |
| ENST00000506290.1:c.2349+312_2349+315del (RASA1) | ENSP00000420905.1:n.2349+312_2349+315del | |
| ENST00000512763.5:c.2346+312_2346+315del (RASA1) | ENSP00000422008.1:n.2346+312_2346+315del | |
| ENST00000515800.6:c.*1372+312_*1372+315del (RASA1) | ENSP00000423395.2:n.*1372+312_*1372+315del | |
| NM_002890.2:c.2847+312_2847+315del (RASA1) | NP_002881.1:n.2847+312_2847+315del | |
| NM_022650.2:c.2316+312_2316+315del (RASA1) | NP_072179.1:n.2316+312_2316+315del | |
| XM_011543525.1:c.2760+312_2760+315del (RASA1) | XP_011541827.1:n.2760+312_2760+315del | |
| XM_011543526.1:c.2847+312_2847+315del (RASA1) | XP_011541828.1:n.2847+312_2847+315del | |
| NM_001364075.1:c.933+9343_933+9346del (CCNH) | NP_001351004.1:n.933+9343_933+9346del | |
| NR_157068.1:n.1447+7069_1447+7072del (CCNH) | ||
| NR_157069.1:n.1040+7069_1040+7072del (CCNH) | ||
| NR_157070.1:n.1204+7069_1204+7072del (CCNH) | ||
| XM_011543525.2:c.2760+312_2760+315del (RASA1) | XP_011541827.1:n.2760+312_2760+315del | |
| NM_001364075.2:c.933+9343_933+9346del (CCNH) | NP_001351004.1:n.933+9343_933+9346del | |
| NM_002890.3:c.2847+312_2847+315del (RASA1) MANE Select | NP_002881.1:n.2847+312_2847+315del | |
| NR_157068.2:n.1447+7069_1447+7072del (CCNH) | ||
| NR_157069.2:n.1040+7069_1040+7072del (CCNH) | ||
| NR_157070.2:n.1204+7069_1204+7072del (CCNH) | ||
| NM_022650.3:c.2316+312_2316+315del (RASA1) | NP_072179.1:n.2316+312_2316+315del |