Canonical Allele Identifier: CA815071185

Gene: RASA1 CCNH

Linked Data

• dbSNP Id: rs1384041072
• gnomAD v3: 5-87333614-T-TATA
• gnomAD v4: 5-87333614-T-TATA
• MyVariant Identifiers: chr5:g.86629431_86629432insATA (hg19) ; chr5:g.87333614_87333615insATA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87333615_87333617dup , CM000667.2:g.87333615_87333617dup	GRCh38
NC_000005.9:g.86629432_86629434dup , CM000667.1:g.86629432_86629434dup	GRCh37
NC_000005.8:g.86665188_86665190dup	NCBI36
NG_011650.1:g.70282_70284dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.899+278_899+280dup (RASA1) MANE Select	ENSP00000274376.6:n.899+278_899+280dup
ENST00000645953.1:c.*91-14720_*91-14718dup (CCNH)	ENSP00000494460.1:n.*91-14720_*91-14718dup
ENST00000274376.10:c.899+278_899+280dup (RASA1)	ENSP00000274376.6:n.899+278_899+280dup
ENST00000456692.6:c.368+278_368+280dup (RASA1)	ENSP00000411221.2:n.368+278_368+280dup
ENST00000506290.1:c.401+278_401+280dup (RASA1)	ENSP00000420905.1:n.401+278_401+280dup
ENST00000512763.5:c.398+278_398+280dup (RASA1)	ENSP00000422008.1:n.398+278_398+280dup
ENST00000515800.6:c.899+278_899+280dup (RASA1)	ENSP00000423395.2:n.899+278_899+280dup
NM_002890.2:c.899+278_899+280dup (RASA1)	NP_002881.1:n.899+278_899+280dup
NM_022650.2:c.368+278_368+280dup (RASA1)	NP_072179.1:n.368+278_368+280dup
XM_011543525.1:c.899+278_899+280dup (RASA1)	XP_011541827.1:n.899+278_899+280dup
XM_011543526.1:c.899+278_899+280dup (RASA1)	XP_011541828.1:n.899+278_899+280dup
XM_011543527.1:c.899+278_899+280dup (RASA1)	XP_011541829.1:n.899+278_899+280dup
NM_001364075.1:c.934-20822_934-20820dup (CCNH)	NP_001351004.1:n.934-20822_934-20820dup
NR_157068.1:n.1448-20822_1448-20820dup (CCNH)
NR_157069.1:n.1041-20822_1041-20820dup (CCNH)
NR_157070.1:n.1205-20822_1205-20820dup (CCNH)
XM_011543525.2:c.899+278_899+280dup (RASA1)	XP_011541827.1:n.899+278_899+280dup
XM_011543527.3:c.899+278_899+280dup (RASA1)	XP_011541829.1:n.899+278_899+280dup
NM_001364075.2:c.934-20822_934-20820dup (CCNH)	NP_001351004.1:n.934-20822_934-20820dup
NM_002890.3:c.899+278_899+280dup (RASA1) MANE Select	NP_002881.1:n.899+278_899+280dup
NR_157068.2:n.1448-20822_1448-20820dup (CCNH)
NR_157069.2:n.1041-20822_1041-20820dup (CCNH)
NR_157070.2:n.1205-20822_1205-20820dup (CCNH)
NM_022650.3:c.368+278_368+280dup (RASA1)	NP_072179.1:n.368+278_368+280dup