Linked Data
dbSNP Id:
rs1213159107
gnomAD v2:
5-86681505-AATTT-A
gnomAD v3:
5-87385688-AATTT-A
gnomAD v4:
5-87385688-AATTT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.87385693_87385696del , CM000667.2:g.87385693_87385696del | GRCh38 |
| NC_000005.9:g.86681510_86681513del , CM000667.1:g.86681510_86681513del | GRCh37 |
| NC_000005.8:g.86717266_86717269del | NCBI36 |
| NG_011650.1:g.122360_122363del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274376.11:c.2847+304_2847+307del (RASA1) MANE Select | ENSP00000274376.6:n.2847+304_2847+307del | |
| ENST00000645953.1:c.*90+7078_*90+7081del (CCNH) | ENSP00000494460.1:n.*90+7078_*90+7081del | |
| ENST00000646883.1:c.254+7078_254+7081del (CCNH) | ||
| ENST00000274376.10:c.2847+304_2847+307del (RASA1) | ENSP00000274376.6:n.2847+304_2847+307del | |
| ENST00000456692.6:c.2316+304_2316+307del (RASA1) | ENSP00000411221.2:n.2316+304_2316+307del | |
| ENST00000506290.1:c.2349+304_2349+307del (RASA1) | ENSP00000420905.1:n.2349+304_2349+307del | |
| ENST00000512763.5:c.2346+304_2346+307del (RASA1) | ENSP00000422008.1:n.2346+304_2346+307del | |
| ENST00000515800.6:c.*1372+304_*1372+307del (RASA1) | ENSP00000423395.2:n.*1372+304_*1372+307del | |
| NM_002890.2:c.2847+304_2847+307del (RASA1) | NP_002881.1:n.2847+304_2847+307del | |
| NM_022650.2:c.2316+304_2316+307del (RASA1) | NP_072179.1:n.2316+304_2316+307del | |
| XM_011543525.1:c.2760+304_2760+307del (RASA1) | XP_011541827.1:n.2760+304_2760+307del | |
| XM_011543526.1:c.2847+304_2847+307del (RASA1) | XP_011541828.1:n.2847+304_2847+307del | |
| NM_001364075.1:c.933+9352_933+9355del (CCNH) | NP_001351004.1:n.933+9352_933+9355del | |
| NR_157068.1:n.1447+7078_1447+7081del (CCNH) | ||
| NR_157069.1:n.1040+7078_1040+7081del (CCNH) | ||
| NR_157070.1:n.1204+7078_1204+7081del (CCNH) | ||
| XM_011543525.2:c.2760+304_2760+307del (RASA1) | XP_011541827.1:n.2760+304_2760+307del | |
| NM_001364075.2:c.933+9352_933+9355del (CCNH) | NP_001351004.1:n.933+9352_933+9355del | |
| NM_002890.3:c.2847+304_2847+307del (RASA1) MANE Select | NP_002881.1:n.2847+304_2847+307del | |
| NR_157068.2:n.1447+7078_1447+7081del (CCNH) | ||
| NR_157069.2:n.1040+7078_1040+7081del (CCNH) | ||
| NR_157070.2:n.1204+7078_1204+7081del (CCNH) | ||
| NM_022650.3:c.2316+304_2316+307del (RASA1) | NP_072179.1:n.2316+304_2316+307del |