Canonical Allele Identifier: CA121817180

Gene: RASA1 CCNH

Linked Data

• dbSNP Id: rs895615949
• gnomAD v3: 5-87331622-TTCAG-T
• gnomAD v4: 5-87331622-TTCAG-T
• MyVariant Identifiers: chr5:g.86627440_86627443del (hg19) ; chr5:g.87331623_87331626del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87331626_87331629del , CM000667.2:g.87331626_87331629del	GRCh38
NC_000005.9:g.86627443_86627446del , CM000667.1:g.86627443_86627446del	GRCh37
NC_000005.8:g.86663199_86663202del	NCBI36
NG_011650.1:g.68293_68296del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.692+126_692+129del (RASA1) MANE Select	ENSP00000274376.6:n.692+126_692+129del
ENST00000645953.1:c.*91-12729_*91-12726del (CCNH)	ENSP00000494460.1:n.*91-12729_*91-12726del
ENST00000274376.10:c.692+126_692+129del (RASA1)	ENSP00000274376.6:n.692+126_692+129del
ENST00000456692.6:c.161+126_161+129del (RASA1)	ENSP00000411221.2:n.161+126_161+129del
ENST00000506290.1:c.194+126_194+129del (RASA1)	ENSP00000420905.1:n.194+126_194+129del
ENST00000512763.5:c.191+126_191+129del (RASA1)	ENSP00000422008.1:n.191+126_191+129del
ENST00000515800.6:c.692+126_692+129del (RASA1)	ENSP00000423395.2:n.692+126_692+129del
NM_002890.2:c.692+126_692+129del (RASA1)	NP_002881.1:n.692+126_692+129del
NM_022650.2:c.161+126_161+129del (RASA1)	NP_072179.1:n.161+126_161+129del
XM_011543525.1:c.692+126_692+129del (RASA1)	XP_011541827.1:n.692+126_692+129del
XM_011543526.1:c.692+126_692+129del (RASA1)	XP_011541828.1:n.692+126_692+129del
XM_011543527.1:c.692+126_692+129del (RASA1)	XP_011541829.1:n.692+126_692+129del
NM_001364075.1:c.934-18831_934-18828del (CCNH)	NP_001351004.1:n.934-18831_934-18828del
NR_157068.1:n.1448-18831_1448-18828del (CCNH)
NR_157069.1:n.1041-18831_1041-18828del (CCNH)
NR_157070.1:n.1205-18831_1205-18828del (CCNH)
XM_011543525.2:c.692+126_692+129del (RASA1)	XP_011541827.1:n.692+126_692+129del
XM_011543527.3:c.692+126_692+129del (RASA1)	XP_011541829.1:n.692+126_692+129del
NM_001364075.2:c.934-18831_934-18828del (CCNH)	NP_001351004.1:n.934-18831_934-18828del
NM_002890.3:c.692+126_692+129del (RASA1) MANE Select	NP_002881.1:n.692+126_692+129del
NR_157068.2:n.1448-18831_1448-18828del (CCNH)
NR_157069.2:n.1041-18831_1041-18828del (CCNH)
NR_157070.2:n.1205-18831_1205-18828del (CCNH)
NM_022650.3:c.161+126_161+129del (RASA1)	NP_072179.1:n.161+126_161+129del