Canonical Allele Identifier: CA2573140077

Gene: RASA1 CCNH

Linked Data

• ClinVar Variation Id: 1454971
• ClinVar RCV Id: RCV001962905
• dbSNP Id: rs2112431809

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87353222del , CM000667.2:g.87353222del	GRCh38
NC_000005.9:g.86649039del , CM000667.1:g.86649039del	GRCh37
NC_000005.8:g.86684795del	NCBI36
NG_011650.1:g.89889del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.1319del (RASA1) MANE Select	ENSP00000274376.6:p.Pro440LeufsTer?
ENST00000645953.1:c.*91-34324del (CCNH)	ENSP00000494460.1:n.*91-34324del
ENST00000274376.10:c.1319del (RASA1)	ENSP00000274376.6:p.Pro440LeufsTer?
ENST00000456692.6:c.788del (RASA1)	ENSP00000411221.2:p.Pro263LeufsTer?
ENST00000506290.1:c.821del (RASA1)	ENSP00000420905.1:p.Pro274LeufsTer?
ENST00000509953.1:n.422del (RASA1)
ENST00000512763.5:c.818del (RASA1)	ENSP00000422008.1:p.Pro273LeufsTer?
ENST00000515800.6:c.1319del (RASA1)	ENSP00000423395.2:p.Pro440LeufsTer?
NM_002890.2:c.1319del (RASA1)	NP_002881.1:p.Pro440LeufsTer?
NM_022650.2:c.788del (RASA1)	NP_072179.1:p.Pro263LeufsTer?
XM_011543525.1:c.1319del (RASA1)	XP_011541827.1:p.Pro440LeufsTer?
XM_011543526.1:c.1319del (RASA1)	XP_011541828.1:p.Pro440LeufsTer?
XM_011543527.1:c.1319del (RASA1)	XP_011541829.1:p.Pro440LeufsTer?
NM_001364075.1:c.934-40426del (CCNH)	NP_001351004.1:n.934-40426del
NR_157068.1:n.1447+39549del (CCNH)
NR_157069.1:n.1040+39549del (CCNH)
NR_157070.1:n.1204+39549del (CCNH)
XM_011543525.2:c.1319del (RASA1)	XP_011541827.1:p.Pro440LeufsTer?
XM_011543527.3:c.1319del (RASA1)	XP_011541829.1:p.Pro440LeufsTer?
NM_001364075.2:c.934-40426del (CCNH)	NP_001351004.1:n.934-40426del
NM_002890.3:c.1319del (RASA1) MANE Select	NP_002881.1:p.Pro440LeufsTer?
NR_157068.2:n.1447+39549del (CCNH)
NR_157069.2:n.1040+39549del (CCNH)
NR_157070.2:n.1204+39549del (CCNH)
NM_022650.3:c.788del (RASA1)	NP_072179.1:p.Pro263LeufsTer?