Canonical Allele Identifier: CA2674516325

Gene: RASA1 CCNH

Linked Data

• gnomAD v4: 5-87363616-GCACTTTCTAGGTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87363617_87363629del , CM000667.2:g.87363617_87363629del	GRCh38
NC_000005.9:g.86659434_86659446del , CM000667.1:g.86659434_86659446del	GRCh37
NC_000005.8:g.86695190_86695202del	NCBI36
NG_011650.1:g.100284_100296del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.1610+113_1610+125del (RASA1) MANE Select	ENSP00000274376.6:n.1610+113_1610+125del
ENST00000645953.1:c.*90+29141_*90+29153del (CCNH)	ENSP00000494460.1:n.*90+29141_*90+29153del
ENST00000274376.10:c.1610+113_1610+125del (RASA1)	ENSP00000274376.6:n.1610+113_1610+125del
ENST00000456692.6:c.1079+113_1079+125del (RASA1)	ENSP00000411221.2:n.1079+113_1079+125del
ENST00000506290.1:c.1112+113_1112+125del (RASA1)	ENSP00000420905.1:n.1112+113_1112+125del
ENST00000509953.1:n.713+113_713+125del (RASA1)
ENST00000512763.5:c.1109+113_1109+125del (RASA1)	ENSP00000422008.1:n.1109+113_1109+125del
ENST00000515800.6:c.1610+113_1610+125del (RASA1)	ENSP00000423395.2:n.1610+113_1610+125del
NM_002890.2:c.1610+113_1610+125del (RASA1)	NP_002881.1:n.1610+113_1610+125del
NM_022650.2:c.1079+113_1079+125del (RASA1)	NP_072179.1:n.1079+113_1079+125del
XM_011543525.1:c.1610+113_1610+125del (RASA1)	XP_011541827.1:n.1610+113_1610+125del
XM_011543526.1:c.1610+113_1610+125del (RASA1)	XP_011541828.1:n.1610+113_1610+125del
XM_011543527.1:c.1610+113_1610+125del (RASA1)	XP_011541829.1:n.1610+113_1610+125del
NM_001364075.1:c.933+31415_933+31427del (CCNH)	NP_001351004.1:n.933+31415_933+31427del
NR_157068.1:n.1447+29141_1447+29153del (CCNH)
NR_157069.1:n.1040+29141_1040+29153del (CCNH)
NR_157070.1:n.1204+29141_1204+29153del (CCNH)
XM_011543525.2:c.1610+113_1610+125del (RASA1)	XP_011541827.1:n.1610+113_1610+125del
XM_011543527.3:c.1610+113_1610+125del (RASA1)	XP_011541829.1:n.1610+113_1610+125del
NM_001364075.2:c.933+31415_933+31427del (CCNH)	NP_001351004.1:n.933+31415_933+31427del
NM_002890.3:c.1610+113_1610+125del (RASA1) MANE Select	NP_002881.1:n.1610+113_1610+125del
NR_157068.2:n.1447+29141_1447+29153del (CCNH)
NR_157069.2:n.1040+29141_1040+29153del (CCNH)
NR_157070.2:n.1204+29141_1204+29153del (CCNH)
NM_022650.3:c.1079+113_1079+125del (RASA1)	NP_072179.1:n.1079+113_1079+125del