Canonical Allele Identifier: CA121821895

Gene: RASA1 CCNH

Linked Data

• dbSNP Id: rs368043768
• gnomAD v2: 5-86685157-CAA-C
• gnomAD v3: 5-87389340-CAA-C
• gnomAD v4: 5-87389340-CAA-C
• MyVariant Identifiers: chr5:g.86685158_86685159del (hg19) ; chr5:g.87389341_87389342del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87389348_87389349del , CM000667.2:g.87389348_87389349del	GRCh38
NC_000005.9:g.86685165_86685166del , CM000667.1:g.86685165_86685166del	GRCh37
NC_000005.8:g.86720921_86720922del	NCBI36
NG_011650.1:g.126015_126016del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.2926-45_2926-44del (RASA1) MANE Select	ENSP00000274376.6:n.2926-45_2926-44del
ENST00000645953.1:c.*90+3428_*90+3429del (CCNH)	ENSP00000494460.1:n.*90+3428_*90+3429del
ENST00000646883.1:c.254+3428_254+3429del (CCNH)
ENST00000274376.10:c.2926-45_2926-44del (RASA1)	ENSP00000274376.6:n.2926-45_2926-44del
ENST00000456692.6:c.2395-45_2395-44del (RASA1)	ENSP00000411221.2:n.2395-45_2395-44del
ENST00000506290.1:c.2428-45_2428-44del (RASA1)	ENSP00000420905.1:n.2428-45_2428-44del
ENST00000512763.5:c.2425-45_2425-44del (RASA1)	ENSP00000422008.1:n.2425-45_2425-44del
ENST00000515800.6:c.*1496_*1497del (RASA1)	ENSP00000423395.2:n.*1496_*1497del
NM_002890.2:c.2926-45_2926-44del (RASA1)	NP_002881.1:n.2926-45_2926-44del
NM_022650.2:c.2395-45_2395-44del (RASA1)	NP_072179.1:n.2395-45_2395-44del
XM_011543525.1:c.2839-45_2839-44del (RASA1)	XP_011541827.1:n.2839-45_2839-44del
NM_001364075.1:c.933+5702_933+5703del (CCNH)	NP_001351004.1:n.933+5702_933+5703del
NR_157068.1:n.1447+3428_1447+3429del (CCNH)
NR_157069.1:n.1040+3428_1040+3429del (CCNH)
NR_157070.1:n.1204+3428_1204+3429del (CCNH)
XM_011543525.2:c.2839-45_2839-44del (RASA1)	XP_011541827.1:n.2839-45_2839-44del
NM_001364075.2:c.933+5702_933+5703del (CCNH)	NP_001351004.1:n.933+5702_933+5703del
NM_002890.3:c.2926-45_2926-44del (RASA1) MANE Select	NP_002881.1:n.2926-45_2926-44del
NR_157068.2:n.1447+3428_1447+3429del (CCNH)
NR_157069.2:n.1040+3428_1040+3429del (CCNH)
NR_157070.2:n.1204+3428_1204+3429del (CCNH)
NM_022650.3:c.2395-45_2395-44del (RASA1)	NP_072179.1:n.2395-45_2395-44del