Canonical Allele Identifier: CA320654

Gene: RASA1 CCNH

Linked Data

• ClinVar Variation Id: 213662
• ClinVar RCV Id: RCV000196235
• dbSNP Id: rs863223720
• MyVariant Identifiers: chr5:g.86627243_86627246del (hg19) ; chr5:g.87331426_87331429del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87331426_87331429del , CM000667.2:g.87331426_87331429del	GRCh38
NC_000005.9:g.86627243_86627246del , CM000667.1:g.86627243_86627246del	GRCh37
NC_000005.8:g.86662999_86663002del	NCBI36
NG_011650.1:g.68093_68096del

Transcript Alleles

HGVS	Amino-acid change
ENST00000274376.11:c.618_621del (RASA1) MANE Select	ENSP00000274376.6:p.Ile206MetfsTer18
ENST00000645953.1:c.*91-12532_*91-12529del (CCNH)	ENSP00000494460.1:n.*91-12532_*91-12529de...
ENST00000274376.10:c.618_621del (RASA1)	ENSP00000274376.6:p.Ile206MetfsTer18
ENST00000456692.6:c.87_90del (RASA1)	ENSP00000411221.2:p.Ile29MetfsTer18
ENST00000506290.1:c.120_123del (RASA1)	ENSP00000420905.1:p.Ile40MetfsTer18
ENST00000512763.5:c.117_120del (RASA1)	ENSP00000422008.1:p.Ile39MetfsTer18
ENST00000515800.6:c.618_621del (RASA1)	ENSP00000423395.2:p.Ile206MetfsTer18
NM_002890.2:c.618_621del (RASA1)	NP_002881.1:p.Ile206MetfsTer18
NM_022650.2:c.87_90del (RASA1)	NP_072179.1:p.Ile29MetfsTer18
XM_011543525.1:c.618_621del (RASA1)	XP_011541827.1:p.Ile206MetfsTer18
XM_011543526.1:c.618_621del (RASA1)	XP_011541828.1:p.Ile206MetfsTer18
XM_011543527.1:c.618_621del (RASA1)	XP_011541829.1:p.Ile206MetfsTer18
NM_001364075.1:c.934-18634_934-18631del (CCNH)	NP_001351004.1:n.934-18634_934-18631del
NR_157068.1:n.1448-18634_1448-18631del (CCNH)
NR_157069.1:n.1041-18634_1041-18631del (CCNH)
NR_157070.1:n.1205-18634_1205-18631del (CCNH)
XM_011543525.2:c.618_621del (RASA1)	XP_011541827.1:p.Ile206MetfsTer18
XM_011543527.3:c.618_621del (RASA1)	XP_011541829.1:p.Ile206MetfsTer18
NM_001364075.2:c.934-18634_934-18631del (CCNH)	NP_001351004.1:n.934-18634_934-18631del
NM_002890.3:c.618_621del (RASA1) MANE Select	NP_002881.1:p.Ile206MetfsTer18
NR_157068.2:n.1448-18634_1448-18631del (CCNH)
NR_157069.2:n.1041-18634_1041-18631del (CCNH)
NR_157070.2:n.1205-18634_1205-18631del (CCNH)
NM_022650.3:c.87_90del (RASA1)	NP_072179.1:p.Ile29MetfsTer18