Canonical Allele Identifier: CA645293866

Linked Data

ClinVar Variation Id: 426630
ClinVar RCV Id: RCV000489096
dbSNP Id: rs1085307720

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.87385340_87385346del , CM000667.2:g.87385340_87385346del GRCh38
NC_000005.9:g.86681157_86681163del , CM000667.1:g.86681157_86681163del GRCh37
NC_000005.8:g.86716913_86716919del NCBI36
NG_011650.1:g.122007_122013del

Transcript Alleles

HGVS Amino-acid change
ENST00000274376.11:c.2798_2804del (RASA1) MANE Select ENSP00000274376.6:p.Val933AspfsTer6
ENST00000645953.1:c.*90+7424_*90+7430del (CCNH) ENSP00000494460.1:n.*90+7424_*90+7430del
ENST00000646883.1:c.254+7424_254+7430del (CCNH)
ENST00000274376.10:c.2798_2804del (RASA1) ENSP00000274376.6:p.Val933AspfsTer6
ENST00000456692.6:c.2267_2273del (RASA1) ENSP00000411221.2:p.Val756AspfsTer6
ENST00000506290.1:c.2300_2306del (RASA1) ENSP00000420905.1:p.Val767AspfsTer6
ENST00000512763.5:c.2297_2303del (RASA1) ENSP00000422008.1:p.Val766AspfsTer6
ENST00000515800.6:c.*1323_*1329del (RASA1) ENSP00000423395.2:n.*1323_*1329del
NM_002890.2:c.2798_2804del (RASA1) NP_002881.1:p.Val933AspfsTer6
NM_022650.2:c.2267_2273del (RASA1) NP_072179.1:p.Val756AspfsTer6
XM_011543525.1:c.2711_2717del (RASA1) XP_011541827.1:p.Val904AspfsTer6
XM_011543526.1:c.2798_2804del (RASA1) XP_011541828.1:p.Val933AspfsTer6
NM_001364075.1:c.933+9698_933+9704del (CCNH) NP_001351004.1:n.933+9698_933+9704del
NR_157068.1:n.1447+7424_1447+7430del (CCNH)
NR_157069.1:n.1040+7424_1040+7430del (CCNH)
NR_157070.1:n.1204+7424_1204+7430del (CCNH)
XM_011543525.2:c.2711_2717del (RASA1) XP_011541827.1:p.Val904AspfsTer6
NM_001364075.2:c.933+9698_933+9704del (CCNH) NP_001351004.1:n.933+9698_933+9704del
NM_002890.3:c.2798_2804del (RASA1) MANE Select NP_002881.1:p.Val933AspfsTer6
NR_157068.2:n.1447+7424_1447+7430del (CCNH)
NR_157069.2:n.1040+7424_1040+7430del (CCNH)
NR_157070.2:n.1204+7424_1204+7430del (CCNH)
NM_022650.3:c.2267_2273del (RASA1) NP_072179.1:p.Val756AspfsTer6