Canonical Allele Identifier: CA3336199

Gene: RASA1 CCNH

Linked Data

• ClinVar Variation Id: 509631
• ClinVar RCV Id: RCV001502210
• dbSNP Id: rs574384512
• ExAC: 5:86685350 C / CT
• gnomAD v2: 5-86685350-C-CT
• gnomAD v3: 5-87389533-C-CT
• gnomAD v4: 5-87389533-C-CT
• MyVariant Identifiers: chr5:g.86685353dup (hg19) ; chr5:g.86685350_86685351insT (hg19) ; chr5:g.87389536dup (hg38) ; chr5:g.87389533_87389534insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87389536dup , CM000667.2:g.87389536dup	GRCh38
NC_000005.9:g.86685353dup , CM000667.1:g.86685353dup	GRCh37
NC_000005.8:g.86721109dup	NCBI36
NG_011650.1:g.126203dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000274376.11:c.3060+9dup (RASA1) MANE Select	ENSP00000274376.6:n.3060+9dup
ENST00000645953.1:c.*90+3236dup (CCNH)	ENSP00000494460.1:n.*90+3236dup
ENST00000646883.1:c.254+3236dup (CCNH)
ENST00000274376.10:c.3060+9dup (RASA1)	ENSP00000274376.6:n.3060+9dup
ENST00000456692.6:c.2529+9dup (RASA1)	ENSP00000411221.2:n.2529+9dup
ENST00000506290.1:c.2562+9dup (RASA1)	ENSP00000420905.1:n.2562+9dup
ENST00000512763.5:c.2559+9dup (RASA1)	ENSP00000422008.1:n.2559+9dup
ENST00000515800.6:c.*1675+9dup (RASA1)	ENSP00000423395.2:n.*1675+9dup
NM_002890.2:c.3060+9dup (RASA1)	NP_002881.1:n.3060+9dup
NM_022650.2:c.2529+9dup (RASA1)	NP_072179.1:n.2529+9dup
XM_011543525.1:c.2973+9dup (RASA1)	XP_011541827.1:n.2973+9dup
NM_001364075.1:c.933+5510dup (CCNH)	NP_001351004.1:n.933+5510dup
NR_157068.1:n.1447+3236dup (CCNH)
NR_157069.1:n.1040+3236dup (CCNH)
NR_157070.1:n.1204+3236dup (CCNH)
XM_011543525.2:c.2973+9dup (RASA1)	XP_011541827.1:n.2973+9dup
NM_001364075.2:c.933+5510dup (CCNH)	NP_001351004.1:n.933+5510dup
NM_002890.3:c.3060+9dup (RASA1) MANE Select	NP_002881.1:n.3060+9dup
NR_157068.2:n.1447+3236dup (CCNH)
NR_157069.2:n.1040+3236dup (CCNH)
NR_157070.2:n.1204+3236dup (CCNH)
NM_022650.3:c.2529+9dup (RASA1)	NP_072179.1:n.2529+9dup