Canonical Allele Identifier: CA2580073686

Gene: RASA1

Linked Data

• ClinVar Variation Id: 2001480
• ClinVar RCV Id: RCV002815483

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87268925dup , CM000667.2:g.87268925dup	GRCh38
NC_000005.9:g.86564742dup , CM000667.1:g.86564742dup	GRCh37
NC_000005.8:g.86600498dup	NCBI36
NG_011650.1:g.5592dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000274376.11:c.474dup MANE Select	ENSP00000274376.6:p.Leu159SerfsTer21
ENST00000274376.10:c.474dup	ENSP00000274376.6:p.Leu159SerfsTer21
ENST00000515800.6:c.474dup	ENSP00000423395.2:p.Leu159SerfsTer21
NM_002890.2:c.474dup	NP_002881.1:p.Leu159SerfsTer21
NM_022650.2:c.-123dup	NP_072179.1:n.-123dup
XM_011543525.1:c.474dup	XP_011541827.1:p.Leu159SerfsTer21
XM_011543526.1:c.474dup	XP_011541828.1:p.Leu159SerfsTer21
XM_011543527.1:c.474dup	XP_011541829.1:p.Leu159SerfsTer21
XM_011543525.2:c.474dup	XP_011541827.1:p.Leu159SerfsTer21
XM_011543527.3:c.474dup	XP_011541829.1:p.Leu159SerfsTer21
NM_002890.3:c.474dup MANE Select	NP_002881.1:p.Leu159SerfsTer21