Canonical Allele Identifier: CA2739274923

Gene: RASA1 CCNH

Linked Data

• ClinVar Variation Id: 2810867
• ClinVar RCV Id: RCV003760807

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87389391_87389394dup , CM000667.2:g.87389391_87389394dup	GRCh38
NC_000005.9:g.86685208_86685211dup , CM000667.1:g.86685208_86685211dup	GRCh37
NC_000005.8:g.86720964_86720967dup	NCBI36
NG_011650.1:g.126058_126061dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.2926-2_2927dup (RASA1)
ENST00000645953.1:c.*90+3378_*90+3381dup (CCNH)	ENSP00000494460.1:n.*90+3378_*90+3381dup
ENST00000646883.1:c.254+3378_254+3381dup (CCNH)
ENST00000274376.10:c.2926-2_2927dup (RASA1)
ENST00000456692.6:c.2395-2_2396dup (RASA1)
ENST00000506290.1:c.2428-2_2429dup (RASA1)
ENST00000512763.5:c.2425-2_2426dup (RASA1)
ENST00000515800.6:c.*1539_*1542dup (RASA1)	ENSP00000423395.2:n.*1539_*1542dup
NM_002890.2:c.2926-2_2927dup (RASA1)
NM_022650.2:c.2395-2_2396dup (RASA1)
XM_011543525.1:c.2839-2_2840dup (RASA1)
NM_001364075.1:c.933+5652_933+5655dup (CCNH)	NP_001351004.1:n.933+5652_933+5655dup
NR_157068.1:n.1447+3378_1447+3381dup (CCNH)
NR_157069.1:n.1040+3378_1040+3381dup (CCNH)
NR_157070.1:n.1204+3378_1204+3381dup (CCNH)
XM_011543525.2:c.2839-2_2840dup (RASA1)
NM_001364075.2:c.933+5652_933+5655dup (CCNH)	NP_001351004.1:n.933+5652_933+5655dup
NM_002890.3:c.2926-2_2927dup (RASA1)
NR_157068.2:n.1447+3378_1447+3381dup (CCNH)
NR_157069.2:n.1040+3378_1040+3381dup (CCNH)
NR_157070.2:n.1204+3378_1204+3381dup (CCNH)
NM_022650.3:c.2395-2_2396dup (RASA1)