Canonical Allele Identifier: CA16611862

Gene: RASA1 CCNH

Linked Data

• ClinVar Variation Id: 411714
• ClinVar RCV Id: RCV000468716 ; RCV002470865 ; RCV002496786
• dbSNP Id: rs1060503441
• gnomAD v4: 5-87331416-GTTATC-G
• MyVariant Identifiers: chr5:g.86627238_86627242del (hg19) ; chr5:g.87331421_87331425del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87331421_87331425del , CM000667.2:g.87331421_87331425del	GRCh38
NC_000005.9:g.86627238_86627242del , CM000667.1:g.86627238_86627242del	GRCh37
NC_000005.8:g.86662994_86662998del	NCBI36
NG_011650.1:g.68088_68092del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.613_617del (RASA1) MANE Select	ENSP00000274376.6:p.Leu205LysfsTer4
ENST00000645953.1:c.*91-12524_*91-12520del (CCNH)	ENSP00000494460.1:n.*91-12524_*91-12520del
ENST00000274376.10:c.613_617del (RASA1)	ENSP00000274376.6:p.Leu205LysfsTer4
ENST00000456692.6:c.82_86del (RASA1)	ENSP00000411221.2:p.Leu28LysfsTer4
ENST00000506290.1:c.115_119del (RASA1)	ENSP00000420905.1:p.Leu39LysfsTer4
ENST00000512763.5:c.112_116del (RASA1)	ENSP00000422008.1:p.Leu38LysfsTer4
ENST00000515800.6:c.613_617del (RASA1)	ENSP00000423395.2:p.Leu205LysfsTer4
NM_002890.2:c.613_617del (RASA1)	NP_002881.1:p.Leu205LysfsTer4
NM_022650.2:c.82_86del (RASA1)	NP_072179.1:p.Leu28LysfsTer4
XM_011543525.1:c.613_617del (RASA1)	XP_011541827.1:p.Leu205LysfsTer4
XM_011543526.1:c.613_617del (RASA1)	XP_011541828.1:p.Leu205LysfsTer4
XM_011543527.1:c.613_617del (RASA1)	XP_011541829.1:p.Leu205LysfsTer4
NM_001364075.1:c.934-18626_934-18622del (CCNH)	NP_001351004.1:n.934-18626_934-18622del
NR_157068.1:n.1448-18626_1448-18622del (CCNH)
NR_157069.1:n.1041-18626_1041-18622del (CCNH)
NR_157070.1:n.1205-18626_1205-18622del (CCNH)
XM_011543525.2:c.613_617del (RASA1)	XP_011541827.1:p.Leu205LysfsTer4
XM_011543527.3:c.613_617del (RASA1)	XP_011541829.1:p.Leu205LysfsTer4
NM_001364075.2:c.934-18626_934-18622del (CCNH)	NP_001351004.1:n.934-18626_934-18622del
NM_002890.3:c.613_617del (RASA1) MANE Select	NP_002881.1:p.Leu205LysfsTer4
NR_157068.2:n.1448-18626_1448-18622del (CCNH)
NR_157069.2:n.1041-18626_1041-18622del (CCNH)
NR_157070.2:n.1205-18626_1205-18622del (CCNH)
NM_022650.3:c.82_86del (RASA1)	NP_072179.1:p.Leu28LysfsTer4