Linked Data
dbSNP Id:
rs769485861
gnomAD v2:
5-86627507-CAA-C
gnomAD v3:
5-87331690-CAA-C
gnomAD v4:
5-87331690-CAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.87331691_87331692del , CM000667.2:g.87331691_87331692del | GRCh38 |
| NC_000005.9:g.86627508_86627509del , CM000667.1:g.86627508_86627509del | GRCh37 |
| NC_000005.8:g.86663264_86663265del | NCBI36 |
| NG_011650.1:g.68358_68359del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274376.11:c.692+191_692+192del (RASA1) MANE Select | ENSP00000274376.6:n.692+191_692+192del | |
| ENST00000645953.1:c.*91-12795_*91-12794del (CCNH) | ENSP00000494460.1:n.*91-12795_*91-12794del | |
| ENST00000274376.10:c.692+191_692+192del (RASA1) | ENSP00000274376.6:n.692+191_692+192del | |
| ENST00000456692.6:c.161+191_161+192del (RASA1) | ENSP00000411221.2:n.161+191_161+192del | |
| ENST00000506290.1:c.194+191_194+192del (RASA1) | ENSP00000420905.1:n.194+191_194+192del | |
| ENST00000512763.5:c.191+191_191+192del (RASA1) | ENSP00000422008.1:n.191+191_191+192del | |
| ENST00000515800.6:c.692+191_692+192del (RASA1) | ENSP00000423395.2:n.692+191_692+192del | |
| NM_002890.2:c.692+191_692+192del (RASA1) | NP_002881.1:n.692+191_692+192del | |
| NM_022650.2:c.161+191_161+192del (RASA1) | NP_072179.1:n.161+191_161+192del | |
| XM_011543525.1:c.692+191_692+192del (RASA1) | XP_011541827.1:n.692+191_692+192del | |
| XM_011543526.1:c.692+191_692+192del (RASA1) | XP_011541828.1:n.692+191_692+192del | |
| XM_011543527.1:c.692+191_692+192del (RASA1) | XP_011541829.1:n.692+191_692+192del | |
| NM_001364075.1:c.934-18897_934-18896del (CCNH) | NP_001351004.1:n.934-18897_934-18896del | |
| NR_157068.1:n.1448-18897_1448-18896del (CCNH) | ||
| NR_157069.1:n.1041-18897_1041-18896del (CCNH) | ||
| NR_157070.1:n.1205-18897_1205-18896del (CCNH) | ||
| XM_011543525.2:c.692+191_692+192del (RASA1) | XP_011541827.1:n.692+191_692+192del | |
| XM_011543527.3:c.692+191_692+192del (RASA1) | XP_011541829.1:n.692+191_692+192del | |
| NM_001364075.2:c.934-18897_934-18896del (CCNH) | NP_001351004.1:n.934-18897_934-18896del | |
| NM_002890.3:c.692+191_692+192del (RASA1) MANE Select | NP_002881.1:n.692+191_692+192del | |
| NR_157068.2:n.1448-18897_1448-18896del (CCNH) | ||
| NR_157069.2:n.1041-18897_1041-18896del (CCNH) | ||
| NR_157070.2:n.1205-18897_1205-18896del (CCNH) | ||
| NM_022650.3:c.161+191_161+192del (RASA1) | NP_072179.1:n.161+191_161+192del |