Canonical Allele Identifier: CA1078440623

Gene: RASA1 CCNH

Linked Data

• dbSNP Id: rs368043768
• gnomAD v3: 5-87389340-C-CAAAA
• gnomAD v4: 5-87389340-C-CAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87389346_87389349dup , CM000667.2:g.87389346_87389349dup	GRCh38
NC_000005.9:g.86685163_86685166dup , CM000667.1:g.86685163_86685166dup	GRCh37
NC_000005.8:g.86720919_86720922dup	NCBI36
NG_011650.1:g.126013_126016dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.2926-47_2926-44dup (RASA1) MANE Select	ENSP00000274376.6:n.2926-47_2926-44dup
ENST00000645953.1:c.*90+3426_*90+3429dup (CCNH)	ENSP00000494460.1:n.*90+3426_*90+3429dup
ENST00000646883.1:c.254+3426_254+3429dup (CCNH)
ENST00000274376.10:c.2926-47_2926-44dup (RASA1)	ENSP00000274376.6:n.2926-47_2926-44dup
ENST00000456692.6:c.2395-47_2395-44dup (RASA1)	ENSP00000411221.2:n.2395-47_2395-44dup
ENST00000506290.1:c.2428-47_2428-44dup (RASA1)	ENSP00000420905.1:n.2428-47_2428-44dup
ENST00000512763.5:c.2425-47_2425-44dup (RASA1)	ENSP00000422008.1:n.2425-47_2425-44dup
ENST00000515800.6:c.*1494_*1497dup (RASA1)	ENSP00000423395.2:n.*1494_*1497dup
NM_002890.2:c.2926-47_2926-44dup (RASA1)	NP_002881.1:n.2926-47_2926-44dup
NM_022650.2:c.2395-47_2395-44dup (RASA1)	NP_072179.1:n.2395-47_2395-44dup
XM_011543525.1:c.2839-47_2839-44dup (RASA1)	XP_011541827.1:n.2839-47_2839-44dup
NM_001364075.1:c.933+5700_933+5703dup (CCNH)	NP_001351004.1:n.933+5700_933+5703dup
NR_157068.1:n.1447+3426_1447+3429dup (CCNH)
NR_157069.1:n.1040+3426_1040+3429dup (CCNH)
NR_157070.1:n.1204+3426_1204+3429dup (CCNH)
XM_011543525.2:c.2839-47_2839-44dup (RASA1)	XP_011541827.1:n.2839-47_2839-44dup
NM_001364075.2:c.933+5700_933+5703dup (CCNH)	NP_001351004.1:n.933+5700_933+5703dup
NM_002890.3:c.2926-47_2926-44dup (RASA1) MANE Select	NP_002881.1:n.2926-47_2926-44dup
NR_157068.2:n.1447+3426_1447+3429dup (CCNH)
NR_157069.2:n.1040+3426_1040+3429dup (CCNH)
NR_157070.2:n.1204+3426_1204+3429dup (CCNH)
NM_022650.3:c.2395-47_2395-44dup (RASA1)	NP_072179.1:n.2395-47_2395-44dup