Canonical Allele Identifier: CA2674515985

Gene: RASA1 CCNH

Linked Data

• gnomAD v4: 5-87353223-T-TGCATTG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87353224_87353225insCATTGG , CM000667.2:g.87353224_87353225insCATTGG	GRCh38
NC_000005.9:g.86649041_86649042insCATTGG , CM000667.1:g.86649041_86649042insCATTGG	GRCh37
NC_000005.8:g.86684797_86684798insCATTGG	NCBI36
NG_011650.1:g.89891_89892insCATTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.1321_1322insCATTGG (RASA1) MANE Select	ENSP00000274376.6:p.Pro440_Val441insAlaLeu
ENST00000645953.1:c.*91-34327_*91-34326insCAATGC (CCNH)	ENSP00000494460.1:n.*91-34327_*91-34326insCAATGC
ENST00000274376.10:c.1321_1322insCATTGG (RASA1)	ENSP00000274376.6:p.Pro440_Val441insAlaLeu
ENST00000456692.6:c.790_791insCATTGG (RASA1)	ENSP00000411221.2:p.Pro263_Val264insAlaLeu
ENST00000506290.1:c.823_824insCATTGG (RASA1)	ENSP00000420905.1:p.Pro274_Val275insAlaLeu
ENST00000509953.1:n.424_425insCATTGG (RASA1)
ENST00000512763.5:c.820_821insCATTGG (RASA1)	ENSP00000422008.1:p.Pro273_Val274insAlaLeu
ENST00000515800.6:c.1321_1322insCATTGG (RASA1)	ENSP00000423395.2:p.Pro440_Val441insAlaLeu
NM_002890.2:c.1321_1322insCATTGG (RASA1)	NP_002881.1:p.Pro440_Val441insAlaLeu
NM_022650.2:c.790_791insCATTGG (RASA1)	NP_072179.1:p.Pro263_Val264insAlaLeu
XM_011543525.1:c.1321_1322insCATTGG (RASA1)	XP_011541827.1:p.Pro440_Val441insAlaLeu
XM_011543526.1:c.1321_1322insCATTGG (RASA1)	XP_011541828.1:p.Pro440_Val441insAlaLeu
XM_011543527.1:c.1321_1322insCATTGG (RASA1)	XP_011541829.1:p.Pro440_Val441insAlaLeu
NM_001364075.1:c.934-40429_934-40428insCAATGC (CCNH)	NP_001351004.1:n.934-40429_934-40428insCAATGC
NR_157068.1:n.1447+39546_1447+39547insCAATGC (CCNH)
NR_157069.1:n.1040+39546_1040+39547insCAATGC (CCNH)
NR_157070.1:n.1204+39546_1204+39547insCAATGC (CCNH)
XM_011543525.2:c.1321_1322insCATTGG (RASA1)	XP_011541827.1:p.Pro440_Val441insAlaLeu
XM_011543527.3:c.1321_1322insCATTGG (RASA1)	XP_011541829.1:p.Pro440_Val441insAlaLeu
NM_001364075.2:c.934-40429_934-40428insCAATGC (CCNH)	NP_001351004.1:n.934-40429_934-40428insCAATGC
NM_002890.3:c.1321_1322insCATTGG (RASA1) MANE Select	NP_002881.1:p.Pro440_Val441insAlaLeu
NR_157068.2:n.1447+39546_1447+39547insCAATGC (CCNH)
NR_157069.2:n.1040+39546_1040+39547insCAATGC (CCNH)
NR_157070.2:n.1204+39546_1204+39547insCAATGC (CCNH)
NM_022650.3:c.790_791insCATTGG (RASA1)	NP_072179.1:p.Pro263_Val264insAlaLeu