Canonical Allele Identifier: CA257405

Gene: RASA1

Linked Data

• ClinVar Variation Id: 15999
• ClinVar RCV Id: RCV000017370 ; RCV000200157 ; RCV002228029 ; RCV003156050
• dbSNP Id: rs797044451
• gnomAD v4: 5-87268921-ACT-A
• COSMIC: COSM1241649
• MyVariant Identifiers: chr5:g.86564743_86564744del (hg19) ; chr5:g.87268926_87268927del (hg38)
• PubMed: PMID:14639529

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87268926_87268927del , CM000667.2:g.87268926_87268927del	GRCh38
NC_000005.9:g.86564743_86564744del , CM000667.1:g.86564743_86564744del	GRCh37
NC_000005.8:g.86600499_86600500del	NCBI36
NG_011650.1:g.5593_5594del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.475_476del MANE Select	ENSP00000274376.6:p.Leu159GlyfsTer20
ENST00000274376.10:c.475_476del	ENSP00000274376.6:p.Leu159GlyfsTer20
ENST00000515800.6:c.475_476del	ENSP00000423395.2:p.Leu159GlyfsTer20
NM_002890.2:c.475_476del	NP_002881.1:p.Leu159GlyfsTer20
XM_011543525.1:c.475_476del	XP_011541827.1:p.Leu159GlyfsTer20
XM_011543526.1:c.475_476del	XP_011541828.1:p.Leu159GlyfsTer20
XM_011543527.1:c.475_476del	XP_011541829.1:p.Leu159GlyfsTer20
XM_011543525.2:c.475_476del	XP_011541827.1:p.Leu159GlyfsTer20
XM_011543527.3:c.475_476del	XP_011541829.1:p.Leu159GlyfsTer20
NM_002890.3:c.475_476del MANE Select	NP_002881.1:p.Leu159GlyfsTer20