Canonical Allele Identifier: CA3336121

Gene: RASA1 CCNH

Linked Data

• dbSNP Id: rs781678286
• ExAC: 5:86681232 TGTAATTTA / T
• gnomAD v2: 5-86681232-TGTAATTTA-T
• gnomAD v4: 5-87385415-TGTAATTTA-T
• MyVariant Identifiers: chr5:g.86681233_86681240del (hg19) ; chr5:g.87385416_87385423del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87385416_87385423del , CM000667.2:g.87385416_87385423del	GRCh38
NC_000005.9:g.86681233_86681240del , CM000667.1:g.86681233_86681240del	GRCh37
NC_000005.8:g.86716989_86716996del	NCBI36
NG_011650.1:g.122083_122090del

Transcript Alleles

HGVS	Amino-acid change
ENST00000274376.11:c.2847+27_2847+34del (RASA1) MANE Select	ENSP00000274376.6:n.2847+27_2847+34del
ENST00000645953.1:c.*90+7347_*90+7354del (CCNH)	ENSP00000494460.1:n.*90+7347_*90+7354del
ENST00000646883.1:c.254+7347_254+7354del (CCNH)
ENST00000274376.10:c.2847+27_2847+34del (RASA1)	ENSP00000274376.6:n.2847+27_2847+34del
ENST00000456692.6:c.2316+27_2316+34del (RASA1)	ENSP00000411221.2:n.2316+27_2316+34del
ENST00000506290.1:c.2349+27_2349+34del (RASA1)	ENSP00000420905.1:n.2349+27_2349+34del
ENST00000512763.5:c.2346+27_2346+34del (RASA1)	ENSP00000422008.1:n.2346+27_2346+34del
ENST00000515800.6:c.*1372+27_*1372+34del (RASA1)	ENSP00000423395.2:n.*1372+27_*1372+34del
NM_002890.2:c.2847+27_2847+34del (RASA1)	NP_002881.1:n.2847+27_2847+34del
NM_022650.2:c.2316+27_2316+34del (RASA1)	NP_072179.1:n.2316+27_2316+34del
XM_011543525.1:c.2760+27_2760+34del (RASA1)	XP_011541827.1:n.2760+27_2760+34del
XM_011543526.1:c.2847+27_2847+34del (RASA1)	XP_011541828.1:n.2847+27_2847+34del
NM_001364075.1:c.933+9621_933+9628del (CCNH)	NP_001351004.1:n.933+9621_933+9628del
NR_157068.1:n.1447+7347_1447+7354del (CCNH)
NR_157069.1:n.1040+7347_1040+7354del (CCNH)
NR_157070.1:n.1204+7347_1204+7354del (CCNH)
XM_011543525.2:c.2760+27_2760+34del (RASA1)	XP_011541827.1:n.2760+27_2760+34del
NM_001364075.2:c.933+9621_933+9628del (CCNH)	NP_001351004.1:n.933+9621_933+9628del
NM_002890.3:c.2847+27_2847+34del (RASA1) MANE Select	NP_002881.1:n.2847+27_2847+34del
NR_157068.2:n.1447+7347_1447+7354del (CCNH)
NR_157069.2:n.1040+7347_1040+7354del (CCNH)
NR_157070.2:n.1204+7347_1204+7354del (CCNH)
NM_022650.3:c.2316+27_2316+34del (RASA1)	NP_072179.1:n.2316+27_2316+34del