Canonical Allele Identifier: CA2697546314

Gene: RASA1 CCNH

Linked Data

• ClinVar Variation Id: 2744649
• ClinVar RCV Id: RCV003593577

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87363455_87363456dup , CM000667.2:g.87363455_87363456dup	GRCh38
NC_000005.9:g.86659272_86659273dup , CM000667.1:g.86659272_86659273dup	GRCh37
NC_000005.8:g.86695028_86695029dup	NCBI36
NG_011650.1:g.100122_100123dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.1561_1562dup (RASA1) MANE Select	ENSP00000274376.6:p.Asp521GlufsTer24
ENST00000645953.1:c.*90+29315_*90+29316dup (CCNH)	ENSP00000494460.1:n.*90+29315_*90+29316dup
ENST00000274376.10:c.1561_1562dup (RASA1)	ENSP00000274376.6:p.Asp521GlufsTer24
ENST00000456692.6:c.1030_1031dup (RASA1)	ENSP00000411221.2:p.Asp344GlufsTer24
ENST00000506290.1:c.1063_1064dup (RASA1)	ENSP00000420905.1:p.Asp355GlufsTer24
ENST00000509953.1:n.664_665dup (RASA1)
ENST00000512763.5:c.1060_1061dup (RASA1)	ENSP00000422008.1:p.Asp354GlufsTer24
ENST00000515800.6:c.1561_1562dup (RASA1)	ENSP00000423395.2:p.Asp521GlufsTer?
NM_002890.2:c.1561_1562dup (RASA1)	NP_002881.1:p.Asp521GlufsTer24
NM_022650.2:c.1030_1031dup (RASA1)	NP_072179.1:p.Asp344GlufsTer24
XM_011543525.1:c.1561_1562dup (RASA1)	XP_011541827.1:p.Asp521GlufsTer24
XM_011543526.1:c.1561_1562dup (RASA1)	XP_011541828.1:p.Asp521GlufsTer24
XM_011543527.1:c.1561_1562dup (RASA1)	XP_011541829.1:p.Asp521GlufsTer?
NM_001364075.1:c.933+31589_933+31590dup (CCNH)	NP_001351004.1:n.933+31589_933+31590dup
NR_157068.1:n.1447+29315_1447+29316dup (CCNH)
NR_157069.1:n.1040+29315_1040+29316dup (CCNH)
NR_157070.1:n.1204+29315_1204+29316dup (CCNH)
XM_011543525.2:c.1561_1562dup (RASA1)	XP_011541827.1:p.Asp521GlufsTer24
XM_011543527.3:c.1561_1562dup (RASA1)	XP_011541829.1:p.Asp521GlufsTer?
NM_001364075.2:c.933+31589_933+31590dup (CCNH)	NP_001351004.1:n.933+31589_933+31590dup
NM_002890.3:c.1561_1562dup (RASA1) MANE Select	NP_002881.1:p.Asp521GlufsTer24
NR_157068.2:n.1447+29315_1447+29316dup (CCNH)
NR_157069.2:n.1040+29315_1040+29316dup (CCNH)
NR_157070.2:n.1204+29315_1204+29316dup (CCNH)
NM_022650.3:c.1030_1031dup (RASA1)	NP_072179.1:p.Asp344GlufsTer24