Canonical Allele Identifier: CA121817215

Gene: RASA1 CCNH

Linked Data

• dbSNP Id: rs1020185766
• gnomAD v2: 5-86627466-TAGAG-T
• gnomAD v3: 5-87331649-TAGAG-T
• gnomAD v4: 5-87331649-TAGAG-T
• MyVariant Identifiers: chr5:g.86627467_86627470del (hg19) ; chr5:g.87331650_87331653del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87331653_87331656del , CM000667.2:g.87331653_87331656del	GRCh38
NC_000005.9:g.86627470_86627473del , CM000667.1:g.86627470_86627473del	GRCh37
NC_000005.8:g.86663226_86663229del	NCBI36
NG_011650.1:g.68320_68323del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.692+153_692+156del (RASA1) MANE Select	ENSP00000274376.6:n.692+153_692+156del
ENST00000645953.1:c.*91-12756_*91-12753del (CCNH)	ENSP00000494460.1:n.*91-12756_*91-12753del
ENST00000274376.10:c.692+153_692+156del (RASA1)	ENSP00000274376.6:n.692+153_692+156del
ENST00000456692.6:c.161+153_161+156del (RASA1)	ENSP00000411221.2:n.161+153_161+156del
ENST00000506290.1:c.194+153_194+156del (RASA1)	ENSP00000420905.1:n.194+153_194+156del
ENST00000512763.5:c.191+153_191+156del (RASA1)	ENSP00000422008.1:n.191+153_191+156del
ENST00000515800.6:c.692+153_692+156del (RASA1)	ENSP00000423395.2:n.692+153_692+156del
NM_002890.2:c.692+153_692+156del (RASA1)	NP_002881.1:n.692+153_692+156del
NM_022650.2:c.161+153_161+156del (RASA1)	NP_072179.1:n.161+153_161+156del
XM_011543525.1:c.692+153_692+156del (RASA1)	XP_011541827.1:n.692+153_692+156del
XM_011543526.1:c.692+153_692+156del (RASA1)	XP_011541828.1:n.692+153_692+156del
XM_011543527.1:c.692+153_692+156del (RASA1)	XP_011541829.1:n.692+153_692+156del
NM_001364075.1:c.934-18858_934-18855del (CCNH)	NP_001351004.1:n.934-18858_934-18855del
NR_157068.1:n.1448-18858_1448-18855del (CCNH)
NR_157069.1:n.1041-18858_1041-18855del (CCNH)
NR_157070.1:n.1205-18858_1205-18855del (CCNH)
XM_011543525.2:c.692+153_692+156del (RASA1)	XP_011541827.1:n.692+153_692+156del
XM_011543527.3:c.692+153_692+156del (RASA1)	XP_011541829.1:n.692+153_692+156del
NM_001364075.2:c.934-18858_934-18855del (CCNH)	NP_001351004.1:n.934-18858_934-18855del
NM_002890.3:c.692+153_692+156del (RASA1) MANE Select	NP_002881.1:n.692+153_692+156del
NR_157068.2:n.1448-18858_1448-18855del (CCNH)
NR_157069.2:n.1041-18858_1041-18855del (CCNH)
NR_157070.2:n.1205-18858_1205-18855del (CCNH)
NM_022650.3:c.161+153_161+156del (RASA1)	NP_072179.1:n.161+153_161+156del