Canonical Allele Identifier: CA658796540

Gene: RASA1 CCNH

Linked Data

• ClinVar Variation Id: 523621
• ClinVar RCV Id: RCV000627050
• dbSNP Id: rs1554045819
• MyVariant Identifiers: chr5:g.86637113dup (hg19) ; chr5:g.87341296dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87341296dup , CM000667.2:g.87341296dup	GRCh38
NC_000005.9:g.86637113dup , CM000667.1:g.86637113dup	GRCh37
NC_000005.8:g.86672869dup	NCBI36
NG_011650.1:g.77963dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000274376.11:c.1024dup (RASA1) MANE Select	ENSP00000274376.6:p.Glu342GlyfsTer6
ENST00000645953.1:c.*91-22397dup (CCNH)	ENSP00000494460.1:n.*91-22397dup
ENST00000274376.10:c.1024dup (RASA1)	ENSP00000274376.6:p.Glu342GlyfsTer6
ENST00000456692.6:c.493dup (RASA1)	ENSP00000411221.2:p.Glu165GlyfsTer6
ENST00000506290.1:c.526dup (RASA1)	ENSP00000420905.1:p.Glu176GlyfsTer6
ENST00000509953.1:n.127dup (RASA1)
ENST00000512763.5:c.523dup (RASA1)	ENSP00000422008.1:p.Glu175GlyfsTer6
ENST00000515800.6:c.1024dup (RASA1)	ENSP00000423395.2:p.Glu342GlyfsTer6
NM_002890.2:c.1024dup (RASA1)	NP_002881.1:p.Glu342GlyfsTer6
NM_022650.2:c.493dup (RASA1)	NP_072179.1:p.Glu165GlyfsTer6
XM_011543525.1:c.1024dup (RASA1)	XP_011541827.1:p.Glu342GlyfsTer6
XM_011543526.1:c.1024dup (RASA1)	XP_011541828.1:p.Glu342GlyfsTer6
XM_011543527.1:c.1024dup (RASA1)	XP_011541829.1:p.Glu342GlyfsTer6
NM_001364075.1:c.934-28499dup (CCNH)	NP_001351004.1:n.934-28499dup
NR_157068.1:n.1448-28499dup (CCNH)
NR_157069.1:n.1041-28499dup (CCNH)
NR_157070.1:n.1205-28499dup (CCNH)
XM_011543525.2:c.1024dup (RASA1)	XP_011541827.1:p.Glu342GlyfsTer6
XM_011543527.3:c.1024dup (RASA1)	XP_011541829.1:p.Glu342GlyfsTer6
NM_001364075.2:c.934-28499dup (CCNH)	NP_001351004.1:n.934-28499dup
NM_002890.3:c.1024dup (RASA1) MANE Select	NP_002881.1:p.Glu342GlyfsTer6
NR_157068.2:n.1448-28499dup (CCNH)
NR_157069.2:n.1041-28499dup (CCNH)
NR_157070.2:n.1205-28499dup (CCNH)
NM_022650.3:c.493dup (RASA1)	NP_072179.1:p.Glu165GlyfsTer6