Canonical Allele Identifier: CA2573052540

Gene: RASA1 CCNH

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87376912_87376913del , CM000667.2:g.87376912_87376913del	GRCh38
NC_000005.9:g.86672729_86672730del , CM000667.1:g.86672729_86672730del	GRCh37
NC_000005.8:g.86708485_86708486del	NCBI36
NG_011650.1:g.113579_113580del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.2216_2217del (RASA1) MANE Select	ENSP00000274376.6:p.Tyr739CysfsTer27
ENST00000607486.1:n.269_270del
ENST00000645953.1:c.*90+15858_*90+15859del (CCNH)	ENSP00000494460.1:n.*90+15858_*90+15859del
ENST00000646883.1:c.255-394_255-393del (CCNH)
ENST00000274376.10:c.2216_2217del (RASA1)	ENSP00000274376.6:p.Tyr739CysfsTer27
ENST00000456692.6:c.1685_1686del (RASA1)	ENSP00000411221.2:p.Tyr562CysfsTer27
ENST00000506290.1:c.1718_1719del (RASA1)	ENSP00000420905.1:p.Tyr573CysfsTer27
ENST00000512763.5:c.1715_1716del (RASA1)	ENSP00000422008.1:p.Tyr572CysfsTer27
ENST00000515800.6:c.*741_*742del (RASA1)	ENSP00000423395.2:n.*741_*742del
NM_002890.2:c.2216_2217del (RASA1)	NP_002881.1:p.Tyr739CysfsTer27
NM_022650.2:c.1685_1686del (RASA1)	NP_072179.1:p.Tyr562CysfsTer27
XM_011543525.1:c.2216_2217del (RASA1)	XP_011541827.1:p.Tyr739CysfsTer27
XM_011543526.1:c.2216_2217del (RASA1)	XP_011541828.1:p.Tyr739CysfsTer27
NM_001364075.1:c.933+18132_933+18133del (CCNH)	NP_001351004.1:n.933+18132_933+18133del
NR_157068.1:n.1447+15858_1447+15859del (CCNH)
NR_157069.1:n.1040+15858_1040+15859del (CCNH)
NR_157070.1:n.1204+15858_1204+15859del (CCNH)
XM_011543525.2:c.2216_2217del (RASA1)	XP_011541827.1:p.Tyr739CysfsTer27
NM_001364075.2:c.933+18132_933+18133del (CCNH)	NP_001351004.1:n.933+18132_933+18133del
NM_002890.3:c.2216_2217del (RASA1) MANE Select	NP_002881.1:p.Tyr739CysfsTer27
NR_157068.2:n.1447+15858_1447+15859del (CCNH)
NR_157069.2:n.1040+15858_1040+15859del (CCNH)
NR_157070.2:n.1204+15858_1204+15859del (CCNH)
NM_022650.3:c.1685_1686del (RASA1)	NP_072179.1:p.Tyr562CysfsTer27