Canonical Allele Identifier: CA2674516311

Gene: RASA1 CCNH

Linked Data

• gnomAD v4: 5-87363593-A-AGG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87363593_87363594insGG , CM000667.2:g.87363593_87363594insGG	GRCh38
NC_000005.9:g.86659410_86659411insGG , CM000667.1:g.86659410_86659411insGG	GRCh37
NC_000005.8:g.86695166_86695167insGG	NCBI36
NG_011650.1:g.100260_100261insGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.1610+89_1610+90insGG (RASA1) MANE Select	ENSP00000274376.6:n.1610+89_1610+90insGG
ENST00000645953.1:c.*90+29176_*90+29177insCC (CCNH)	ENSP00000494460.1:n.*90+29176_*90+29177insCC
ENST00000274376.10:c.1610+89_1610+90insGG (RASA1)	ENSP00000274376.6:n.1610+89_1610+90insGG
ENST00000456692.6:c.1079+89_1079+90insGG (RASA1)	ENSP00000411221.2:n.1079+89_1079+90insGG
ENST00000506290.1:c.1112+89_1112+90insGG (RASA1)	ENSP00000420905.1:n.1112+89_1112+90insGG
ENST00000509953.1:n.713+89_713+90insGG (RASA1)
ENST00000512763.5:c.1109+89_1109+90insGG (RASA1)	ENSP00000422008.1:n.1109+89_1109+90insGG
ENST00000515800.6:c.1610+89_1610+90insGG (RASA1)	ENSP00000423395.2:n.1610+89_1610+90insGG
NM_002890.2:c.1610+89_1610+90insGG (RASA1)	NP_002881.1:n.1610+89_1610+90insGG
NM_022650.2:c.1079+89_1079+90insGG (RASA1)	NP_072179.1:n.1079+89_1079+90insGG
XM_011543525.1:c.1610+89_1610+90insGG (RASA1)	XP_011541827.1:n.1610+89_1610+90insGG
XM_011543526.1:c.1610+89_1610+90insGG (RASA1)	XP_011541828.1:n.1610+89_1610+90insGG
XM_011543527.1:c.1610+89_1610+90insGG (RASA1)	XP_011541829.1:n.1610+89_1610+90insGG
NM_001364075.1:c.933+31450_933+31451insCC (CCNH)	NP_001351004.1:n.933+31450_933+31451insCC
NR_157068.1:n.1447+29176_1447+29177insCC (CCNH)
NR_157069.1:n.1040+29176_1040+29177insCC (CCNH)
NR_157070.1:n.1204+29176_1204+29177insCC (CCNH)
XM_011543525.2:c.1610+89_1610+90insGG (RASA1)	XP_011541827.1:n.1610+89_1610+90insGG
XM_011543527.3:c.1610+89_1610+90insGG (RASA1)	XP_011541829.1:n.1610+89_1610+90insGG
NM_001364075.2:c.933+31450_933+31451insCC (CCNH)	NP_001351004.1:n.933+31450_933+31451insCC
NM_002890.3:c.1610+89_1610+90insGG (RASA1) MANE Select	NP_002881.1:n.1610+89_1610+90insGG
NR_157068.2:n.1447+29176_1447+29177insCC (CCNH)
NR_157069.2:n.1040+29176_1040+29177insCC (CCNH)
NR_157070.2:n.1204+29176_1204+29177insCC (CCNH)
NM_022650.3:c.1079+89_1079+90insGG (RASA1)	NP_072179.1:n.1079+89_1079+90insGG