Canonical Allele Identifier: CA2580073697

Gene: RASA1 CCNH

Linked Data

• ClinVar Variation Id: 2024978
• ClinVar RCV Id: RCV002848098 ; RCV003542374

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87385298_87385299del , CM000667.2:g.87385298_87385299del	GRCh38
NC_000005.9:g.86681115_86681116del , CM000667.1:g.86681115_86681116del	GRCh37
NC_000005.8:g.86716871_86716872del	NCBI36
NG_011650.1:g.121965_121966del

Transcript Alleles

HGVS	Amino-acid change
ENST00000274376.11:c.2759-3_2759-2del (RASA1) MANE Select	ENSP00000274376.6:n.2759-3_2759-2del
ENST00000645953.1:c.*90+7472_*90+7473del (CCNH)	ENSP00000494460.1:n.*90+7472_*90+7473del
ENST00000646883.1:c.254+7472_254+7473del (CCNH)
ENST00000274376.10:c.2759-3_2759-2del (RASA1)	ENSP00000274376.6:n.2759-3_2759-2del
ENST00000456692.6:c.2228-3_2228-2del (RASA1)	ENSP00000411221.2:n.2228-3_2228-2del
ENST00000506290.1:c.2261-3_2261-2del (RASA1)	ENSP00000420905.1:n.2261-3_2261-2del
ENST00000512763.5:c.2258-3_2258-2del (RASA1)	ENSP00000422008.1:n.2258-3_2258-2del
ENST00000515800.6:c.*1284-3_*1284-2del (RASA1)	ENSP00000423395.2:n.*1284-3_*1284-2del
NM_002890.2:c.2759-3_2759-2del (RASA1)	NP_002881.1:n.2759-3_2759-2del
NM_022650.2:c.2228-3_2228-2del (RASA1)	NP_072179.1:n.2228-3_2228-2del
XM_011543525.1:c.2672-3_2672-2del (RASA1)	XP_011541827.1:n.2672-3_2672-2del
XM_011543526.1:c.2759-3_2759-2del (RASA1)	XP_011541828.1:n.2759-3_2759-2del
NM_001364075.1:c.933+9746_933+9747del (CCNH)	NP_001351004.1:n.933+9746_933+9747del
NR_157068.1:n.1447+7472_1447+7473del (CCNH)
NR_157069.1:n.1040+7472_1040+7473del (CCNH)
NR_157070.1:n.1204+7472_1204+7473del (CCNH)
XM_011543525.2:c.2672-3_2672-2del (RASA1)	XP_011541827.1:n.2672-3_2672-2del
NM_001364075.2:c.933+9746_933+9747del (CCNH)	NP_001351004.1:n.933+9746_933+9747del
NM_002890.3:c.2759-3_2759-2del (RASA1) MANE Select	NP_002881.1:n.2759-3_2759-2del
NR_157068.2:n.1447+7472_1447+7473del (CCNH)
NR_157069.2:n.1040+7472_1040+7473del (CCNH)
NR_157070.2:n.1204+7472_1204+7473del (CCNH)
NM_022650.3:c.2228-3_2228-2del (RASA1)	NP_072179.1:n.2228-3_2228-2del