Canonical Allele Identifier: CA916082733

Gene: RASA1 CCNH

Linked Data

• ClinVar Variation Id: 854189
• ClinVar RCV Id: RCV001059178
• dbSNP Id: rs1757588488

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87331386_87331389dup , CM000667.2:g.87331386_87331389dup	GRCh38
NC_000005.9:g.86627203_86627206dup , CM000667.1:g.86627203_86627206dup	GRCh37
NC_000005.8:g.86662959_86662962dup	NCBI36
NG_011650.1:g.68053_68056dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.578_581dup (RASA1) MANE Select	ENSP00000274376.6:p.Leu195ThrfsTer17
ENST00000645953.1:c.*91-12491_*91-12488dup (CCNH)	ENSP00000494460.1:n.*91-12491_*91-12488dup
ENST00000274376.10:c.578_581dup (RASA1)	ENSP00000274376.6:p.Leu195ThrfsTer17
ENST00000456692.6:c.47_50dup (RASA1)	ENSP00000411221.2:p.Leu18ThrfsTer17
ENST00000506290.1:c.80_83dup (RASA1)	ENSP00000420905.1:p.Leu29ThrfsTer17
ENST00000512763.5:c.77_80dup (RASA1)	ENSP00000422008.1:p.Leu28ThrfsTer17
ENST00000515800.6:c.578_581dup (RASA1)	ENSP00000423395.2:p.Leu195ThrfsTer17
NM_002890.2:c.578_581dup (RASA1)	NP_002881.1:p.Leu195ThrfsTer17
NM_022650.2:c.47_50dup (RASA1)	NP_072179.1:p.Leu18ThrfsTer17
XM_011543525.1:c.578_581dup (RASA1)	XP_011541827.1:p.Leu195ThrfsTer17
XM_011543526.1:c.578_581dup (RASA1)	XP_011541828.1:p.Leu195ThrfsTer17
XM_011543527.1:c.578_581dup (RASA1)	XP_011541829.1:p.Leu195ThrfsTer17
NM_001364075.1:c.934-18593_934-18590dup (CCNH)	NP_001351004.1:n.934-18593_934-18590dup
NR_157068.1:n.1448-18593_1448-18590dup (CCNH)
NR_157069.1:n.1041-18593_1041-18590dup (CCNH)
NR_157070.1:n.1205-18593_1205-18590dup (CCNH)
XM_011543525.2:c.578_581dup (RASA1)	XP_011541827.1:p.Leu195ThrfsTer17
XM_011543527.3:c.578_581dup (RASA1)	XP_011541829.1:p.Leu195ThrfsTer17
NM_001364075.2:c.934-18593_934-18590dup (CCNH)	NP_001351004.1:n.934-18593_934-18590dup
NM_002890.3:c.578_581dup (RASA1) MANE Select	NP_002881.1:p.Leu195ThrfsTer17
NR_157068.2:n.1448-18593_1448-18590dup (CCNH)
NR_157069.2:n.1041-18593_1041-18590dup (CCNH)
NR_157070.2:n.1205-18593_1205-18590dup (CCNH)
NM_022650.3:c.47_50dup (RASA1)	NP_072179.1:p.Leu18ThrfsTer17