Canonical Allele Identifier: CA2739274924

Gene: RASA1 CCNH

Linked Data

• ClinVar Variation Id: 2816449
• ClinVar RCV Id: RCV003760911

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87389435del , CM000667.2:g.87389435del	GRCh38
NC_000005.9:g.86685252del , CM000667.1:g.86685252del	GRCh37
NC_000005.8:g.86721008del	NCBI36
NG_011650.1:g.126102del

Transcript Alleles

HGVS	Amino-acid change
ENST00000274376.11:c.2968del (RASA1) MANE Select	ENSP00000274376.6:p.Asp990ThrfsTer6
ENST00000645953.1:c.*90+3336del (CCNH)	ENSP00000494460.1:n.*90+3336del
ENST00000646883.1:c.254+3336del (CCNH)
ENST00000274376.10:c.2968del (RASA1)	ENSP00000274376.6:p.Asp990ThrfsTer6
ENST00000456692.6:c.2437del (RASA1)	ENSP00000411221.2:p.Asp813ThrfsTer6
ENST00000506290.1:c.2470del (RASA1)	ENSP00000420905.1:p.Asp824ThrfsTer6
ENST00000512763.5:c.2467del (RASA1)	ENSP00000422008.1:p.Asp823ThrfsTer6
ENST00000515800.6:c.*1583del (RASA1)	ENSP00000423395.2:n.*1583del
NM_002890.2:c.2968del (RASA1)	NP_002881.1:p.Asp990ThrfsTer6
NM_022650.2:c.2437del (RASA1)	NP_072179.1:p.Asp813ThrfsTer6
XM_011543525.1:c.2881del (RASA1)	XP_011541827.1:p.Asp961ThrfsTer6
NM_001364075.1:c.933+5610del (CCNH)	NP_001351004.1:n.933+5610del
NR_157068.1:n.1447+3336del (CCNH)
NR_157069.1:n.1040+3336del (CCNH)
NR_157070.1:n.1204+3336del (CCNH)
XM_011543525.2:c.2881del (RASA1)	XP_011541827.1:p.Asp961ThrfsTer6
NM_001364075.2:c.933+5610del (CCNH)	NP_001351004.1:n.933+5610del
NM_002890.3:c.2968del (RASA1) MANE Select	NP_002881.1:p.Asp990ThrfsTer6
NR_157068.2:n.1447+3336del (CCNH)
NR_157069.2:n.1040+3336del (CCNH)
NR_157070.2:n.1204+3336del (CCNH)
NM_022650.3:c.2437del (RASA1)	NP_072179.1:p.Asp813ThrfsTer6