Canonical Allele Identifier: CA2674516001

Gene: RASA1 CCNH

Linked Data

• gnomAD v4: 5-87353289-TTGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87353294_87353296del , CM000667.2:g.87353294_87353296del	GRCh38
NC_000005.9:g.86649111_86649113del , CM000667.1:g.86649111_86649113del	GRCh37
NC_000005.8:g.86684867_86684869del	NCBI36
NG_011650.1:g.89961_89963del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.1332+59_1332+61del (RASA1) MANE Select	ENSP00000274376.6:n.1332+59_1332+61del
ENST00000645953.1:c.*91-34395_*91-34393del (CCNH)	ENSP00000494460.1:n.*91-34395_*91-34393del
ENST00000274376.10:c.1332+59_1332+61del (RASA1)	ENSP00000274376.6:n.1332+59_1332+61del
ENST00000456692.6:c.801+59_801+61del (RASA1)	ENSP00000411221.2:n.801+59_801+61del
ENST00000506290.1:c.834+59_834+61del (RASA1)	ENSP00000420905.1:n.834+59_834+61del
ENST00000509953.1:n.435+59_435+61del (RASA1)
ENST00000512763.5:c.831+59_831+61del (RASA1)	ENSP00000422008.1:n.831+59_831+61del
ENST00000515800.6:c.1332+59_1332+61del (RASA1)	ENSP00000423395.2:n.1332+59_1332+61del
NM_002890.2:c.1332+59_1332+61del (RASA1)	NP_002881.1:n.1332+59_1332+61del
NM_022650.2:c.801+59_801+61del (RASA1)	NP_072179.1:n.801+59_801+61del
XM_011543525.1:c.1332+59_1332+61del (RASA1)	XP_011541827.1:n.1332+59_1332+61del
XM_011543526.1:c.1332+59_1332+61del (RASA1)	XP_011541828.1:n.1332+59_1332+61del
XM_011543527.1:c.1332+59_1332+61del (RASA1)	XP_011541829.1:n.1332+59_1332+61del
NM_001364075.1:c.934-40497_934-40495del (CCNH)	NP_001351004.1:n.934-40497_934-40495del
NR_157068.1:n.1447+39478_1447+39480del (CCNH)
NR_157069.1:n.1040+39478_1040+39480del (CCNH)
NR_157070.1:n.1204+39478_1204+39480del (CCNH)
XM_011543525.2:c.1332+59_1332+61del (RASA1)	XP_011541827.1:n.1332+59_1332+61del
XM_011543527.3:c.1332+59_1332+61del (RASA1)	XP_011541829.1:n.1332+59_1332+61del
NM_001364075.2:c.934-40497_934-40495del (CCNH)	NP_001351004.1:n.934-40497_934-40495del
NM_002890.3:c.1332+59_1332+61del (RASA1) MANE Select	NP_002881.1:n.1332+59_1332+61del
NR_157068.2:n.1447+39478_1447+39480del (CCNH)
NR_157069.2:n.1040+39478_1040+39480del (CCNH)
NR_157070.2:n.1204+39478_1204+39480del (CCNH)
NM_022650.3:c.801+59_801+61del (RASA1)	NP_072179.1:n.801+59_801+61del