Canonical Allele Identifier: CA121800899

Gene: RASA1 CCNH

Linked Data

• dbSNP Id: rs988478968
• gnomAD v2: 5-86659375-TACAA-T
• gnomAD v3: 5-87363558-TACAA-T
• gnomAD v4: 5-87363558-TACAA-T
• MyVariant Identifiers: chr5:g.86659376_86659379del (hg19) ; chr5:g.87363559_87363562del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87363564_87363567del , CM000667.2:g.87363564_87363567del	GRCh38
NC_000005.9:g.86659381_86659384del , CM000667.1:g.86659381_86659384del	GRCh37
NC_000005.8:g.86695137_86695140del	NCBI36
NG_011650.1:g.100231_100234del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.1610+60_1610+63del (RASA1) MANE Select	ENSP00000274376.6:n.1610+60_1610+63del
ENST00000645953.1:c.*90+29208_*90+29211del (CCNH)	ENSP00000494460.1:n.*90+29208_*90+29211del
ENST00000274376.10:c.1610+60_1610+63del (RASA1)	ENSP00000274376.6:n.1610+60_1610+63del
ENST00000456692.6:c.1079+60_1079+63del (RASA1)	ENSP00000411221.2:n.1079+60_1079+63del
ENST00000506290.1:c.1112+60_1112+63del (RASA1)	ENSP00000420905.1:n.1112+60_1112+63del
ENST00000509953.1:n.713+60_713+63del (RASA1)
ENST00000512763.5:c.1109+60_1109+63del (RASA1)	ENSP00000422008.1:n.1109+60_1109+63del
ENST00000515800.6:c.1610+60_1610+63del (RASA1)	ENSP00000423395.2:n.1610+60_1610+63del
NM_002890.2:c.1610+60_1610+63del (RASA1)	NP_002881.1:n.1610+60_1610+63del
NM_022650.2:c.1079+60_1079+63del (RASA1)	NP_072179.1:n.1079+60_1079+63del
XM_011543525.1:c.1610+60_1610+63del (RASA1)	XP_011541827.1:n.1610+60_1610+63del
XM_011543526.1:c.1610+60_1610+63del (RASA1)	XP_011541828.1:n.1610+60_1610+63del
XM_011543527.1:c.1610+60_1610+63del (RASA1)	XP_011541829.1:n.1610+60_1610+63del
NM_001364075.1:c.933+31482_933+31485del (CCNH)	NP_001351004.1:n.933+31482_933+31485del
NR_157068.1:n.1447+29208_1447+29211del (CCNH)
NR_157069.1:n.1040+29208_1040+29211del (CCNH)
NR_157070.1:n.1204+29208_1204+29211del (CCNH)
XM_011543525.2:c.1610+60_1610+63del (RASA1)	XP_011541827.1:n.1610+60_1610+63del
XM_011543527.3:c.1610+60_1610+63del (RASA1)	XP_011541829.1:n.1610+60_1610+63del
NM_001364075.2:c.933+31482_933+31485del (CCNH)	NP_001351004.1:n.933+31482_933+31485del
NM_002890.3:c.1610+60_1610+63del (RASA1) MANE Select	NP_002881.1:n.1610+60_1610+63del
NR_157068.2:n.1447+29208_1447+29211del (CCNH)
NR_157069.2:n.1040+29208_1040+29211del (CCNH)
NR_157070.2:n.1204+29208_1204+29211del (CCNH)
NM_022650.3:c.1079+60_1079+63del (RASA1)	NP_072179.1:n.1079+60_1079+63del