Linked Data
dbSNP Id:
rs1363708472
gnomAD v2:
5-86681539-AACTC-A
gnomAD v3:
5-87385722-AACTC-A
gnomAD v4:
5-87385722-AACTC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.87385724_87385727del , CM000667.2:g.87385724_87385727del | GRCh38 |
| NC_000005.9:g.86681541_86681544del , CM000667.1:g.86681541_86681544del | GRCh37 |
| NC_000005.8:g.86717297_86717300del | NCBI36 |
| NG_011650.1:g.122391_122394del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274376.11:c.2847+335_2847+338del (RASA1) MANE Select | ENSP00000274376.6:n.2847+335_2847+338del | |
| ENST00000645953.1:c.*90+7044_*90+7047del (CCNH) | ENSP00000494460.1:n.*90+7044_*90+7047del | |
| ENST00000646883.1:c.254+7044_254+7047del (CCNH) | ||
| ENST00000274376.10:c.2847+335_2847+338del (RASA1) | ENSP00000274376.6:n.2847+335_2847+338del | |
| ENST00000456692.6:c.2316+335_2316+338del (RASA1) | ENSP00000411221.2:n.2316+335_2316+338del | |
| ENST00000506290.1:c.2349+335_2349+338del (RASA1) | ENSP00000420905.1:n.2349+335_2349+338del | |
| ENST00000512763.5:c.2346+335_2346+338del (RASA1) | ENSP00000422008.1:n.2346+335_2346+338del | |
| ENST00000515800.6:c.*1372+335_*1372+338del (RASA1) | ENSP00000423395.2:n.*1372+335_*1372+338del | |
| NM_002890.2:c.2847+335_2847+338del (RASA1) | NP_002881.1:n.2847+335_2847+338del | |
| NM_022650.2:c.2316+335_2316+338del (RASA1) | NP_072179.1:n.2316+335_2316+338del | |
| XM_011543525.1:c.2760+335_2760+338del (RASA1) | XP_011541827.1:n.2760+335_2760+338del | |
| XM_011543526.1:c.2847+335_2847+338del (RASA1) | XP_011541828.1:n.2847+335_2847+338del | |
| NM_001364075.1:c.933+9318_933+9321del (CCNH) | NP_001351004.1:n.933+9318_933+9321del | |
| NR_157068.1:n.1447+7044_1447+7047del (CCNH) | ||
| NR_157069.1:n.1040+7044_1040+7047del (CCNH) | ||
| NR_157070.1:n.1204+7044_1204+7047del (CCNH) | ||
| XM_011543525.2:c.2760+335_2760+338del (RASA1) | XP_011541827.1:n.2760+335_2760+338del | |
| NM_001364075.2:c.933+9318_933+9321del (CCNH) | NP_001351004.1:n.933+9318_933+9321del | |
| NM_002890.3:c.2847+335_2847+338del (RASA1) MANE Select | NP_002881.1:n.2847+335_2847+338del | |
| NR_157068.2:n.1447+7044_1447+7047del (CCNH) | ||
| NR_157069.2:n.1040+7044_1040+7047del (CCNH) | ||
| NR_157070.2:n.1204+7044_1204+7047del (CCNH) | ||
| NM_022650.3:c.2316+335_2316+338del (RASA1) | NP_072179.1:n.2316+335_2316+338del |