Canonical Allele Identifier: CA445200229

Gene: RASA1 CCNH

Linked Data

• dbSNP Id: rs1561325048
• gnomAD v4: 5-87379753-GA-G
• COSMIC: COSM1263823 ; COSM1263824
• MyVariant Identifiers: chr5:g.86675571del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87379760del , CM000667.2:g.87379760del	GRCh38
NC_000005.9:g.86675577del , CM000667.1:g.86675577del	GRCh37
NC_000005.8:g.86711333del	NCBI36
NG_011650.1:g.116427del

Transcript Alleles

HGVS	Amino-acid change
ENST00000274376.11:c.2513del (RASA1) MANE Select	ENSP00000274376.6:p.Asn838MetfsTer4
ENST00000645953.1:c.*90+13016del (CCNH)	ENSP00000494460.1:n.*90+13016del
ENST00000646883.1:c.255-3236del (CCNH)
ENST00000274376.10:c.2513del (RASA1)	ENSP00000274376.6:p.Asn838MetfsTer4
ENST00000456692.6:c.1982del (RASA1)	ENSP00000411221.2:p.Asn661MetfsTer4
ENST00000506290.1:c.2015del (RASA1)	ENSP00000420905.1:p.Asn672MetfsTer4
ENST00000512763.5:c.2012del (RASA1)	ENSP00000422008.1:p.Asn671MetfsTer4
ENST00000515800.6:c.*1038del (RASA1)	ENSP00000423395.2:n.*1038del
NM_002890.2:c.2513del (RASA1)	NP_002881.1:p.Asn838MetfsTer4
NM_022650.2:c.1982del (RASA1)	NP_072179.1:p.Asn661MetfsTer4
XM_011543525.1:c.2513del (RASA1)	XP_011541827.1:p.Asn838MetfsTer4
XM_011543526.1:c.2513del (RASA1)	XP_011541828.1:p.Asn838MetfsTer4
NM_001364075.1:c.933+15290del (CCNH)	NP_001351004.1:n.933+15290del
NR_157068.1:n.1447+13016del (CCNH)
NR_157069.1:n.1040+13016del (CCNH)
NR_157070.1:n.1204+13016del (CCNH)
XM_011543525.2:c.2513del (RASA1)	XP_011541827.1:p.Asn838MetfsTer4
NM_001364075.2:c.933+15290del (CCNH)	NP_001351004.1:n.933+15290del
NM_002890.3:c.2513del (RASA1) MANE Select	NP_002881.1:p.Asn838MetfsTer4
NR_157068.2:n.1447+13016del (CCNH)
NR_157069.2:n.1040+13016del (CCNH)
NR_157070.2:n.1204+13016del (CCNH)
NM_022650.3:c.1982del (RASA1)	NP_072179.1:p.Asn661MetfsTer4