Canonical Allele Identifier: CA560883091

Gene: RASA1 CCNH

Linked Data

• dbSNP Id: rs1273519182
• gnomAD v2: 5-86675578-TGAA-T
• gnomAD v4: 5-87379761-TGAA-T
• MyVariant Identifiers: chr5:g.86675579_86675581del (hg19) ; chr5:g.87379762_87379764del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87379764_87379766del , CM000667.2:g.87379764_87379766del	GRCh38
NC_000005.9:g.86675581_86675583del , CM000667.1:g.86675581_86675583del	GRCh37
NC_000005.8:g.86711337_86711339del	NCBI36
NG_011650.1:g.116431_116433del

Transcript Alleles

HGVS	Amino-acid change
ENST00000274376.11:c.2517_2519del (RASA1) MANE Select	ENSP00000274376.6:p.Glu839del
ENST00000645953.1:c.*90+13006_*90+13008del (CCNH)	ENSP00000494460.1:n.*90+13006_*90+13008de...
ENST00000646883.1:c.255-3246_255-3244del (CCNH)
ENST00000274376.10:c.2517_2519del (RASA1)	ENSP00000274376.6:p.Glu839del
ENST00000456692.6:c.1986_1988del (RASA1)	ENSP00000411221.2:p.Glu662del
ENST00000506290.1:c.2019_2021del (RASA1)	ENSP00000420905.1:p.Glu673del
ENST00000512763.5:c.2016_2018del (RASA1)	ENSP00000422008.1:p.Glu672del
ENST00000515800.6:c.*1042_*1044del (RASA1)	ENSP00000423395.2:n.*1042_*1044del
NM_002890.2:c.2517_2519del (RASA1)	NP_002881.1:p.Glu839del
NM_022650.2:c.1986_1988del (RASA1)	NP_072179.1:p.Glu662del
XM_011543525.1:c.2517_2519del (RASA1)	XP_011541827.1:p.Glu839del
XM_011543526.1:c.2517_2519del (RASA1)	XP_011541828.1:p.Glu839del
NM_001364075.1:c.933+15280_933+15282del (CCNH)	NP_001351004.1:n.933+15280_933+15282del
NR_157068.1:n.1447+13006_1447+13008del (CCNH)
NR_157069.1:n.1040+13006_1040+13008del (CCNH)
NR_157070.1:n.1204+13006_1204+13008del (CCNH)
XM_011543525.2:c.2517_2519del (RASA1)	XP_011541827.1:p.Glu839del
NM_001364075.2:c.933+15280_933+15282del (CCNH)	NP_001351004.1:n.933+15280_933+15282del
NM_002890.3:c.2517_2519del (RASA1) MANE Select	NP_002881.1:p.Glu839del
NR_157068.2:n.1447+13006_1447+13008del (CCNH)
NR_157069.2:n.1040+13006_1040+13008del (CCNH)
NR_157070.2:n.1204+13006_1204+13008del (CCNH)
NM_022650.3:c.1986_1988del (RASA1)	NP_072179.1:p.Glu662del