Canonical Allele Identifier: CA2739274822
Gene: RASA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2893369
ClinVar RCV Id: RCV003760224

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.87268853del , CM000667.2:g.87268853del GRCh38
NC_000005.9:g.86564670del , CM000667.1:g.86564670del GRCh37
NC_000005.8:g.86600426del NCBI36
NG_011650.1:g.5520del

Transcript Alleles

HGVS Amino-acid Change
ENST00000274376.11:c.402del MANE Select ENSP00000274376.6:p.Pro136LeufsTer?
ENST00000274376.10:c.402del ENSP00000274376.6:p.Pro136LeufsTer?
ENST00000515800.6:c.402del ENSP00000423395.2:p.Pro136LeufsTer?
NM_002890.2:c.402del NP_002881.1:p.Pro136LeufsTer?
XM_011543525.1:c.402del XP_011541827.1:p.Pro136LeufsTer?
XM_011543526.1:c.402del XP_011541828.1:p.Pro136LeufsTer?
XM_011543527.1:c.402del XP_011541829.1:p.Pro136LeufsTer?
XM_011543525.2:c.402del XP_011541827.1:p.Pro136LeufsTer?
XM_011543527.3:c.402del XP_011541829.1:p.Pro136LeufsTer?
NM_002890.3:c.402del MANE Select NP_002881.1:p.Pro136LeufsTer?