Canonical Allele Identifier: CA3336159

Gene: RASA1 CCNH

Linked Data

• dbSNP Id: rs745880769
• ExAC: 5:86685164 AAAG / A
• gnomAD v2: 5-86685164-AAAG-A
• gnomAD v3: 5-87389347-AAAG-A
• gnomAD v4: 5-87389347-AAAG-A
• MyVariant Identifiers: chr5:g.86685165_86685167del (hg19) ; chr5:g.87389349_87389351del (hg38) ; chr5:g.87389348_87389350del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87389352_87389354del , CM000667.2:g.87389352_87389354del	GRCh38
NC_000005.9:g.86685169_86685171del , CM000667.1:g.86685169_86685171del	GRCh37
NC_000005.8:g.86720925_86720927del	NCBI36
NG_011650.1:g.126019_126021del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.2926-41_2926-39del (RASA1) MANE Select	ENSP00000274376.6:n.2926-41_2926-39del
ENST00000645953.1:c.*90+3420_*90+3422del (CCNH)	ENSP00000494460.1:n.*90+3420_*90+3422del
ENST00000646883.1:c.254+3420_254+3422del (CCNH)
ENST00000274376.10:c.2926-41_2926-39del (RASA1)	ENSP00000274376.6:n.2926-41_2926-39del
ENST00000456692.6:c.2395-41_2395-39del (RASA1)	ENSP00000411221.2:n.2395-41_2395-39del
ENST00000506290.1:c.2428-41_2428-39del (RASA1)	ENSP00000420905.1:n.2428-41_2428-39del
ENST00000512763.5:c.2425-41_2425-39del (RASA1)	ENSP00000422008.1:n.2425-41_2425-39del
ENST00000515800.6:c.*1500_*1502del (RASA1)	ENSP00000423395.2:n.*1500_*1502del
NM_002890.2:c.2926-41_2926-39del (RASA1)	NP_002881.1:n.2926-41_2926-39del
NM_022650.2:c.2395-41_2395-39del (RASA1)	NP_072179.1:n.2395-41_2395-39del
XM_011543525.1:c.2839-41_2839-39del (RASA1)	XP_011541827.1:n.2839-41_2839-39del
NM_001364075.1:c.933+5694_933+5696del (CCNH)	NP_001351004.1:n.933+5694_933+5696del
NR_157068.1:n.1447+3420_1447+3422del (CCNH)
NR_157069.1:n.1040+3420_1040+3422del (CCNH)
NR_157070.1:n.1204+3420_1204+3422del (CCNH)
XM_011543525.2:c.2839-41_2839-39del (RASA1)	XP_011541827.1:n.2839-41_2839-39del
NM_001364075.2:c.933+5694_933+5696del (CCNH)	NP_001351004.1:n.933+5694_933+5696del
NM_002890.3:c.2926-41_2926-39del (RASA1) MANE Select	NP_002881.1:n.2926-41_2926-39del
NR_157068.2:n.1447+3420_1447+3422del (CCNH)
NR_157069.2:n.1040+3420_1040+3422del (CCNH)
NR_157070.2:n.1204+3420_1204+3422del (CCNH)
NM_022650.3:c.2395-41_2395-39del (RASA1)	NP_072179.1:n.2395-41_2395-39del